Misplaced Pages

#176823

106-536: Sperm cells contribute approximately half of the nuclear genetic information to the diploid offspring (excluding, in most cases, mitochondrial DNA ). In mammals, the sex of the offspring is determined by the sperm cell: a spermatozoon bearing an X chromosome will lead to a female (XX) offspring, while one bearing a Y chromosome will lead to a male (XY) offspring. Sperm cells were first observed in Antonie van Leeuwenhoek 's laboratory in 1677. The human sperm cell

212-442: A centriole , and perhaps also an oocyte -activating factor (OAF). It may also contribute with paternal messenger RNA (mRNA), also contributing to embryonic development. The human spermatozoon contains at least 7500 different proteins . Human sperm genetics has been associated with human evolution , per a 2020 study. DNA damages present in spermatozoa in the period after meiosis but before fertilization may be repaired in

318-584: A promoter sequence. The promoter is recognized and bound by transcription factors that recruit and help RNA polymerase bind to the region to initiate transcription. The recognition typically occurs as a consensus sequence like the TATA box . A gene can have more than one promoter, resulting in messenger RNAs ( mRNA ) that differ in how far they extend in the 5' end. Highly transcribed genes have "strong" promoter sequences that form strong associations with transcription factors, thereby initiating transcription at

424-576: A " start codon ", and three " stop codons " indicate the beginning and end of the protein coding region . There are 64 possible codons (four possible nucleotides at each of three positions, hence 4  possible codons) and only 20 standard amino acids; hence the code is redundant and multiple codons can specify the same amino acid. The correspondence between codons and amino acids is nearly universal among all known living organisms. Oocyte An oocyte ( UK : / ˈ oʊ ə s aɪ t / , US : / ˈ oʊ oʊ -/ ), oöcyte , or ovocyte

530-416: A Y-chromosome. A human sperm cell consists of a flat, disc shaped head 5.1  μm by 3.1 μm and a tail known as a flagellum 50 μm long. The flagellum propels the sperm cell (at about 1–3 mm/minute in humans) by whipping in an elliptical cone. Sperm have an olfactory guidance mechanism , and after reaching the fallopian tubes , must undergo a period of capacitation before penetration of

636-445: A continuous messenger RNA , referred to as a polycistronic mRNA . The term cistron in this context is equivalent to gene. The transcription of an operon's mRNA is often controlled by a repressor that can occur in an active or inactive state depending on the presence of specific metabolites. When active, the repressor binds to a DNA sequence at the beginning of the operon, called the operator region , and represses transcription of

742-495: A double-helix run in opposite directions. Nucleic acid synthesis, including DNA replication and transcription occurs in the 5'→3' direction, because new nucleotides are added via a dehydration reaction that uses the exposed 3' hydroxyl as a nucleophile . The expression of genes encoded in DNA begins by transcribing the gene into RNA , a second type of nucleic acid that is very similar to DNA, but whose monomers contain

848-488: A few genes and are transferable between individuals. For example, the genes for antibiotic resistance are usually encoded on bacterial plasmids and can be passed between individual cells, even those of different species, via horizontal gene transfer . Whereas the chromosomes of prokaryotes are relatively gene-dense, those of eukaryotes often contain regions of DNA that serve no obvious function. Simple single-celled eukaryotes have relatively small amounts of such DNA, whereas

954-434: A gene - surprisingly, there is no definition that is entirely satisfactory. A gene is a DNA sequence that codes for a diffusible product. This product may be protein (as is the case in the majority of genes) or may be RNA (as is the case of genes that code for tRNA and rRNA). The crucial feature is that the product diffuses away from its site of synthesis to act elsewhere. The important parts of such definitions are: (1) that

1060-565: A gene corresponds to a transcription unit; (2) that genes produce both mRNA and noncoding RNAs; and (3) regulatory sequences control gene expression but are not part of the gene itself. However, there's one other important part of the definition and it is emphasized in Kostas Kampourakis' book Making Sense of Genes . Therefore in this book I will consider genes as DNA sequences encoding information for functional products, be it proteins or RNA molecules. With 'encoding information', I mean that

1166-410: A gene may be split across chromosomes but those transcripts are concatenated back together into a functional sequence by trans-splicing . It is also possible for overlapping genes to share some of their DNA sequence, either on opposite strands or the same strand (in a different reading frame, or even the same reading frame). In all organisms, two steps are required to read the information encoded in

SECTION 10

#1732891888177

1272-404: A gene's DNA and produce the protein it specifies. First, the gene's DNA is transcribed to messenger RNA ( mRNA ). Second, that mRNA is translated to protein. RNA-coding genes must still go through the first step, but are not translated into protein. The process of producing a biologically functional molecule of either RNA or protein is called gene expression , and the resulting molecule

1378-565: A gene: that of bacteriophage MS2 coat protein. The subsequent development of chain-termination DNA sequencing in 1977 by Frederick Sanger improved the efficiency of sequencing and turned it into a routine laboratory tool. An automated version of the Sanger method was used in early phases of the Human Genome Project . The theories developed in the early 20th century to integrate Mendelian genetics with Darwinian evolution are called

1484-439: A gene; however, members of a population may have different alleles at the locus, each with a slightly different gene sequence. The majority of eukaryotic genes are stored on a set of large, linear chromosomes. The chromosomes are packed within the nucleus in complex with storage proteins called histones to form a unit called a nucleosome . DNA packaged and condensed in this way is called chromatin . The manner in which DNA

1590-448: A high capability for efficient repair of DNA damages . In particular, DNA double-strand breaks can be repaired during the period of prophase arrest by homologous recombinational repair and by non-homologous end joining . DNA repair capability appears to be a key quality control mechanism in the female germ line and a critical determinant of fertility . The spermatozoon that fertilizes an oocyte will contribute its pronucleus ,

1696-448: A high rate. Others genes have "weak" promoters that form weak associations with transcription factors and initiate transcription less frequently. Eukaryotic promoter regions are much more complex and difficult to identify than prokaryotic promoters. Additionally, genes can have regulatory regions many kilobases upstream or downstream of the gene that alter expression. These act by binding to transcription factors which then cause

1802-460: A network of fibrils, protein, and RNAs, have been observed to increase in density as the number of ribosomes decrease within a growing oocyte and mutation in them have been linked to infertility. Female mammals and birds are born possessing all the oocytes needed for future ovulations, and these oocytes are arrested at the prophase I stage of meiosis . In humans, as an example, oocytes are formed between three and four months of gestation within

1908-572: A new expanded definition that includes noncoding genes. However, some modern writers still do not acknowledge noncoding genes although this so-called "new" definition has been recognised for more than half a century. Although some definitions can be more broadly applicable than others, the fundamental complexity of biology means that no definition of a gene can capture all aspects perfectly. Not all genomes are DNA (e.g. RNA viruses ), bacterial operons are multiple protein-coding regions transcribed into single large mRNAs, alternative splicing enables

2014-400: A process known as RNA splicing . Finally, the ends of gene transcripts are defined by cleavage and polyadenylation (CPA) sites , where newly produced pre-mRNA gets cleaved and a string of ~200 adenosine monophosphates is added at the 3' end. The poly(A) tail protects mature mRNA from degradation and has other functions, affecting translation, localization, and transport of the transcript from

2120-419: A protein-coding gene consists of many elements of which the actual protein coding sequence is often only a small part. These include introns and untranslated regions of the mature mRNA. Noncoding genes can also contain introns that are removed during processing to produce the mature functional RNA. All genes are associated with regulatory sequences that are required for their expression. First, genes require

2226-425: A signal that the cell should not be rejected. The female immune system might otherwise attack sperm in the reproductive tract . The specific glycoproteins coating sperm cells are also utilized by some cancerous and bacterial cells, some parasitic worms, and HIV-infected white blood cells, thereby avoiding an immune response from the host organism . The blood-testis barrier , maintained by the tight junctions between

SECTION 20

#1732891888177

2332-408: A significant role in fertilization, though the mechanisms are not entirely known and are species specific. In order for an oocyte to become fertilized and ultimately grow into a fully functioning organism, it must be able to regulate multiple cellular and developmental processes. The oocyte, a large and complex cell, must be able to direct the growth of the embryo and control cellular activities. As

2438-412: A single genomic region to encode multiple district products and trans-splicing concatenates mRNAs from shorter coding sequence across the genome. Since molecular definitions exclude elements such as introns, promotors, and other regulatory regions , these are instead thought of as "associated" with the gene and affect its function. An even broader operational definition is sometimes used to encompass

2544-472: A strict definition of the word "gene" with which nearly every expert can agree. First, in order for a nucleotide sequence to be considered a true gene, an open reading frame (ORF) must be present. The ORF can be thought of as the "gene itself"; it begins with a starting mark common for every gene and ends with one of three possible finish line signals. One of the key enzymes in this process, the RNA polymerase, zips along

2650-409: A true gene, by this definition, one has to prove that the transcript has a biological function. Early speculations on the size of a typical gene were based on high-resolution genetic mapping and on the size of proteins and RNA molecules. A length of 1500 base pairs seemed reasonable at the time (1965). This was based on the idea that the gene was the DNA that was directly responsible for production of

2756-434: A variety of maternally transcribed messenger RNAs, or mRNAs , are supplied by maternal cells. These mRNAs can be stored in mRNP (message ribonucleoprotein) complexes and be translated at specific time points, they can be localized within a specific region of the cytoplasm, or they can be homogeneously dispersed within the cytoplasm of the entire oocyte. Maternally loaded proteins can also be localized or ubiquitous throughout

2862-444: Is 21 years. The capacitation is the final phase of spermatozoa development, when they acquire the capability to fertilize the oocyte. In vivo, it happens during ejaculation, when spermatozoa leave the vagina and come in the superior female reproductive tract. In vitro, it happens when the spermatozoa is washed and purified. Almost 30-40% of infertility is due to male factor, so several strategies have been created in order to recover

2968-491: Is a female gametocyte or germ cell involved in reproduction . In other words, it is an immature ovum , or egg cell . An oocyte is produced in a female fetus in the ovary during female gametogenesis . The female germ cells produce a primordial germ cell (PGC), which then undergoes mitosis , forming oogonia . During oogenesis , the oogonia become primary oocytes. An oocyte is a form of genetic material that can be collected for cryoconservation . The formation of an oocyte

3074-432: Is a necessary medium for sperm and egg to meet. Algae and lower plant sperm cells are often multi-flagellated (see image) and thus morphologically different from animal spermatozoa. Some algae and fungi produce non-motile sperm cells, called spermatia. In higher plants and some algae and fungi, fertilization involves the migration of the sperm nucleus through a fertilization tube (e.g. pollen tube in higher plants) to reach

3180-456: Is called a gene product . The nucleotide sequence of a gene's DNA specifies the amino acid sequence of a protein through the genetic code . Sets of three nucleotides, known as codons , each correspond to a specific amino acid. The principle that three sequential bases of DNA code for each amino acid was demonstrated in 1961 using frameshift mutations in the rIIB gene of bacteriophage T4 (see Crick, Brenner et al. experiment ). Additionally,

3286-447: Is called oocytogenesis, which is a part of oogenesis. Oogenesis results in the formation of both primary oocytes during fetal period, and of secondary oocytes after it as part of ovulation . Oocytes are rich in cytoplasm , which contains yolk granules to nourish the cell early in development. During the primary oocyte stage of oogenesis, the nucleus is called a germinal vesicle. The only normal human type of secondary oocyte has

Spermatozoon - Misplaced Pages Continue

3392-424: Is considered a secondary oocyte. Before ovulation, the cumulus complex goes through a structural change known as cumulus expansion. The granulosa cells transform from tightly compacted to an expanded mucoid matrix. Many studies show that cumulus expansion is critical for the maturation of the oocyte because the cumulus complex is the oocyte's direct communication with the developing follicle environment. It also plays

3498-407: Is dense and inactive in a mature oocyte, it is required for proper development of the embryo. Maternal cells also synthesize and contribute a store of ribosomes that are required for the translation of proteins before the zygotic genome is activated . In mammalian oocytes, maternally derived ribosomes and some mRNAs are stored in a structure called cytoplasmic lattices. These cytoplasmic lattices,

3604-510: Is increased by tobacco smoking, and occupational exposure to benzene, insecticides, and perfluorinated compounds. Increased aneuploidy of spermatozoa often occurs in association with increased DNA damage. DNA fragmentation and increased in situ DNA susceptibility to denaturation, the features similar to these seen during apoptosis of somatic cells, characterize abnormal spermatozoa in cases of male infertility . Although DNA repair has long been considered impossible in human spermatozoa due to

3710-400: Is nearly the same for all known organisms. The total complement of genes in an organism or cell is known as its genome , which may be stored on one or more chromosomes . A chromosome consists of a single, very long DNA helix on which thousands of genes are encoded. The region of the chromosome at which a particular gene is located is called its locus . Each locus contains one allele of

3816-410: Is referred to a total amount of >39 mill ejaculated , >32% with progressive motility and >4% normal morphology. Also, a normal ejaculation in humans must have a volume over 1.5 ml, being an excessive volume 6 ml per ejaculation ( hyperspermia ). An insufficient volume is called hypospermia . These problems are related to several complications in spermatozoa production, for example: Approaching

3922-399: Is responsible for the influx of calcium. The sudden rise in calcium levels causes the flagellum to form deeper bends, propelling the sperm more forcefully through the viscous environment. Sperm hyperactivity is necessary for breaking through two physical barriers that protect the egg from fertilization. The second process in sperm activation is the acrosome reaction . This involves releasing

4028-403: Is still part of the definition of a gene in most textbooks. For example, The primary function of the genome is to produce RNA molecules. Selected portions of the DNA nucleotide sequence are copied into a corresponding RNA nucleotide sequence, which either encodes a protein (if it is an mRNA) or forms a 'structural' RNA, such as a transfer RNA (tRNA) or ribosomal RNA (rRNA) molecule. Each region of

4134-399: Is stored on the histones, as well as chemical modifications of the histone itself, regulate whether a particular region of DNA is accessible for gene expression . In addition to genes, eukaryotic chromosomes contain sequences involved in ensuring that the DNA is copied without degradation of end regions and sorted into daughter cells during cell division: replication origins , telomeres , and

4240-442: Is the reproductive cell in males and will only survive in warm environments; once it leaves the male body the sperm's survival likelihood is reduced and it may die, thereby decreasing the total sperm quality . Sperm cells come in two types, "female" and "male". Sperm cells that give rise to female (XX) offspring after fertilization differ in that they carry an X-chromosome, while sperm cells that give rise to male (XY) offspring carry

4346-474: The Illini Variable Temperature (IVT) diluent, which have been reported to be able to preserve high fertility of spermatozoa for over seven days. The IVT diluent is composed of several salts, sugars and antibacterial agents and gassed with CO 2 . Semen cryopreservation can be used for far longer storage durations. For human spermatozoa, the longest reported successful storage with this method

Spermatozoon - Misplaced Pages Continue

4452-541: The Sertoli cells of the seminiferous tubules, prevents communication between the forming spermatozoa in the testis and the blood vessels (and immune cells circulating within them) within the interstitial space . This prevents them from eliciting an immune response. The blood-testis barrier is also important in preventing toxic substances from disrupting spermatogenesis. Fertilization relies on spermatozoa for most sexually reproductive animals. Some species of fruit fly produce

4558-511: The aging process. The centromere is required for binding spindle fibres to separate sister chromatids into daughter cells during cell division . Prokaryotes ( bacteria and archaea ) typically store their genomes on a single, large, circular chromosome . Similarly, some eukaryotic organelles contain a remnant circular chromosome with a small number of genes. Prokaryotes sometimes supplement their chromosome with additional small circles of DNA called plasmids , which usually encode only

4664-401: The central dogma of molecular biology , which states that proteins are translated from RNA , which is transcribed from DNA . This dogma has since been shown to have exceptions, such as reverse transcription in retroviruses . The modern study of genetics at the level of DNA is known as molecular genetics . In 1972, Walter Fiers and his team were the first to determine the sequence of

4770-419: The centromere . Replication origins are the sequence regions where DNA replication is initiated to make two copies of the chromosome. Telomeres are long stretches of repetitive sequences that cap the ends of the linear chromosomes and prevent degradation of coding and regulatory regions during DNA replication . The length of the telomeres decreases each time the genome is replicated and has been implicated in

4876-549: The modern synthesis , a term introduced by Julian Huxley . This view of evolution was emphasized by George C. Williams ' gene-centric view of evolution . He proposed that the Mendelian gene is a unit of natural selection with the definition: "that which segregates and recombines with appreciable frequency." Related ideas emphasizing the centrality of Mendelian genes and the importance of natural selection in evolution were popularized by Richard Dawkins . The development of

4982-475: The neutral theory of evolution in the late 1960s led to the recognition that random genetic drift is a major player in evolution and that neutral theory should be the null hypothesis of molecular evolution. This led to the construction of phylogenetic trees and the development of the molecular clock , which is the basis of all dating techniques using DNA sequences. These techniques are not confined to molecular gene sequences but can be used on all DNA segments in

5088-750: The operon ; when the repressor is inactive transcription of the operon can occur (see e.g. Lac operon ). The products of operon genes typically have related functions and are involved in the same regulatory network . Though many genes have simple structures, as with much of biology, others can be quite complex or represent unusual edge-cases. Eukaryotic genes often have introns that are much larger than their exons, and those introns can even have other genes nested inside them . Associated enhancers may be many kilobase away, or even on entirely different chromosomes operating via physical contact between two chromosomes. A single gene can encode multiple different functional products by alternative splicing , and conversely

5194-508: The phenotype of the individual. Most biological traits occur under the combined influence of polygenes (a set of different genes) and gene–environment interactions . Some genetic traits are instantly visible, such as eye color or the number of limbs, others are not, such as blood type , the risk for specific diseases, or the thousands of basic biochemical processes that constitute life . A gene can acquire mutations in its sequence , leading to different variants, known as alleles , in

5300-449: The population . These alleles encode slightly different versions of a gene, which may cause different phenotypical traits. Genes evolve due to natural selection or survival of the fittest and genetic drift of the alleles. There are many different ways to use the term "gene" based on different aspects of their inheritance, selection, biological function, or molecular structure but most of these definitions fall into two categories,

5406-508: The 23rd (sex) chromosome as 23,X (female-determining), whereas sperm can have 23,X (female-determining) or 23,Y (male-determining). The space within an ovum or immature ovum is located is the cell-nest . The cumulus-oocyte complex contains layers of tightly packed cumulus cells surrounding the oocyte in the Graafian follicle. The oocyte is arrested in Meiosis II at the stage of metaphase II and

SECTION 50

#1732891888177

5512-410: The DNA genome of the oocytes, the metabolism contributing to the synthesis of much of the oocyte's constituents was shifted to other maternal cells that then transferred these constituents to oocytes. Thus, oocytes of many organisms are protected from oxidative DNA damage while storing up a large mass of substances to nurture the zygote in its initial embryonic growth. During the growth of the oocyte,

5618-404: The DNA helix that produces a functional RNA molecule constitutes a gene. We define a gene as a DNA sequence that is transcribed. This definition includes genes that do not encode proteins (not all transcripts are messenger RNA). The definition normally excludes regions of the genome that control transcription but are not themselves transcribed. We will encounter some exceptions to our definition of

5724-450: The DNA sequence is used as a template for the production of an RNA molecule or a protein that performs some function. The emphasis on function is essential because there are stretches of DNA that produce non-functional transcripts and they do not qualify as genes. These include obvious examples such as transcribed pseudogenes as well as less obvious examples such as junk RNA produced as noise due to transcription errors. In order to qualify as

5830-766: The DNA to loop so that the regulatory sequence (and bound transcription factor) become close to the RNA polymerase binding site. For example, enhancers increase transcription by binding an activator protein which then helps to recruit the RNA polymerase to the promoter; conversely silencers bind repressor proteins and make the DNA less available for RNA polymerase. The mature messenger RNA produced from protein-coding genes contains untranslated regions at both ends which contain binding sites for ribosomes , RNA-binding proteins , miRNA , as well as terminator , and start and stop codons . In addition, most eukaryotic open reading frames contain untranslated introns , which are removed and exons , which are connected together in

5936-506: The Mendelian gene or the molecular gene. The Mendelian gene is the classical gene of genetics and it refers to any heritable trait. This is the gene described in The Selfish Gene . More thorough discussions of this version of a gene can be found in the articles Genetics and Gene-centered view of evolution . The molecular gene definition is more commonly used across biochemistry, molecular biology, and most of genetics —

6042-433: The adenines of one strand are paired with the thymines of the other strand, and so on. Due to the chemical composition of the pentose residues of the bases, DNA strands have directionality. One end of a DNA polymer contains an exposed hydroxyl group on the deoxyribose ; this is known as the 3' end of the molecule. The other end contains an exposed phosphate group; this is the 5' end . The two strands of

6148-401: The attachment of ubiquitinated proteins. The destruction of paternal mitochondria ensures the strictly maternal inheritance of mitochondria and mitochondrial DNA (mtDNA). In mammals, the nucleolus of the oocyte is derived solely from maternal cells. The nucleolus, a structure found within the nucleus, is the location where rRNA is transcribed and assembled into ribosomes. While the nucleolus

6254-405: The average somatic cell, and thus considerable metabolic activity is necessary for their provisioning. If this metabolic activity were carried out by the oocyte's metabolic machinery, the oocyte genome would be exposed to the reactive oxidative by-products generated. Thus it appears that a process evolved to avoid this vulnerability of germline DNA. It was proposed that, in order to avoid damage to

6360-417: The axial filament in the cytoplasm. It provides motility, and hence is called the powerhouse of the sperm. It also has a ring centriole (annulus) that form a diffusion barrier between the middle piece and the principal piece and serve as a stabilizing structure for tail rigidity. Tail: The flagellum is the longest part (50 μm), having an axial filament surrounded by cytoplasm and plasma membrane, but at

6466-402: The complexity of these diverse phenomena, where a gene is defined as a union of genomic sequences encoding a coherent set of potentially overlapping functional products. This definition categorizes genes by their functional products (proteins or RNA) rather than their specific DNA loci, with regulatory elements classified as gene-associated regions. The existence of discrete inheritable units

SECTION 60

#1732891888177

6572-405: The contents of the acrosome, which disperse, and the exposure of enzymes attached to the inner acrosomal membrane of the sperm. This occurs after the sperm first meets the egg. This lock-and-key type mechanism is species-specific and prevents the sperm and egg of different species from fusing. There is some evidence that this binding is what triggers the acrosome to release the enzymes that allow

6678-408: The cytoplasm. The translated products of the mRNAs and the loaded proteins have multiple functions; from regulation of cellular "house-keeping" such as cell cycle progression and cellular metabolism, to regulation of developmental processes such as fertilization , activation of zygotic transcription, and formation of body axes. Below are some examples of maternally inherited mRNAs and proteins found in

6784-524: The distinction between a heterozygote and homozygote , and the phenomenon of discontinuous inheritance. Prior to Mendel's work, the dominant theory of heredity was one of blending inheritance , which suggested that each parent contributed fluids to the fertilization process and that the traits of the parents blended and mixed to produce the offspring. Charles Darwin developed a theory of inheritance he termed pangenesis , from Greek pan ("all, whole") and genesis ("birth") / genos ("origin"). Darwin used

6890-410: The early 1950s the prevailing view was that the genes in a chromosome acted like discrete entities arranged like beads on a string. The experiments of Benzer using mutants defective in the rII region of bacteriophage T4 (1955–1959) showed that individual genes have a simple linear structure and are likely to be equivalent to a linear section of DNA. Collectively, this body of research established

6996-419: The egg cell is a rather complex, multistep process of chemotaxis guided by different chemical substances/stimuli on individual levels of phylogeny. One of the most significant, common signaling characters of the event is that a prototype of professional chemotaxis receptors, formyl peptide receptor (60,000 receptor/cell) as well as the activator ability of its ligand formyl Met-Leu-Phe have been demonstrated in

7102-429: The egg cell. Spermatozoa are produced in the seminiferous tubules of the testicles in a process called spermatogenesis . Round cells called spermatogonia divide and differentiate eventually to become spermatozoa. During copulation , the cloaca or vagina gets inseminated , and then the spermatozoa move through chemotaxis to the ovum inside an oviduct . In assisted reproductive technology , normozoospermia

7208-399: The egg, it undergoes the acrosome reaction in which the membrane surrounding the acrosome fuses with the plasma membrane of the sperm's head, exposing the contents of the acrosome. Neck: It is the smallest part (.03 μm), and has a proximal centriole parallel to the base of the nucleus and distal centriole perpendicular to the previous one. The proximal centriole is present also in

7314-514: The fact that both protein-coding genes and noncoding genes have been known for more than 50 years, there are still a number of textbooks, websites, and scientific publications that define a gene as a DNA sequence that specifies a protein. In other words, the definition is restricted to protein-coding genes. Here is an example from a recent article in American Scientist. ... to truly assess the potential significance of de novo genes, we relied on

7420-403: The female reproductive tract and are a means by which fertilization is promoted. The postmeiotic phase of mouse spermatogenesis is very sensitive to environmental genotoxic agents, because as male germ cells form mature spermatozoa they progressively lose the ability to repair DNA damage. Irradiation of male mice during late spermatogenesis can induce damage that persists for at least 7 days in

7526-433: The fertilized egg, but if not repaired, can have serious deleterious effects on fertility and the developing embryo. Human spermatozoa are particularly vulnerable to free radical attack and the generation of oxidative DNA damage. (see e.g. 8-Oxo-2'-deoxyguanosine ) Exposure of males to certain lifestyle, environmental or occupational hazards may increase the risk of aneuploid spermatozoa. In particular, risk of aneuploidy

7632-675: The fertilizing spermatozoa, and disruption of maternal DNA double-strand break repair pathways increases spermatozoa-derived chromosomal aberrations. Treatment of male mice with melphalan , a bifunctional alkylating agent frequently employed in chemotherapy, induces DNA lesions during meiosis that may persist in an unrepaired state as germ cells progress through DNA repair-competent phases of spermatogenic development. Such unrepaired DNA damages in spermatozoa, after fertilization, can lead to offspring with various abnormalities. Sea urchins such as Arbacia punctulata are ideal organisms to use in sperm research, they spawn large numbers of sperm into

7738-455: The fetus and are therefore present at birth. During this prophase I arrested stage ( dictyate ), which may last for many years, four copies of the genome are present in the oocytes. The arrest of ooctyes at the four genome copy stage appears to provide the informational redundancy needed to repair damage in the DNA of the germline . The repair process used likely involves homologous recombinational repair. Prophase arrested oocytes have

7844-413: The functional product. The discovery of introns in the 1970s meant that many eukaryotic genes were much larger than the size of the functional product would imply. Typical mammalian protein-coding genes, for example, are about 62,000 base pairs in length (transcribed region) and since there are about 20,000 of them they occupy about 35–40% of the mammalian genome (including the human genome). In spite of

7950-403: The functional spermatozoa. The MMP (Million Motile Progressive cells per milliliter) measure is synonymous with capacitation , and is very useful parameter to decide, along with a spermiogram , the kind of treatment needed. it represents the ratio between the % of progressive motile sperm obtained in capacitated and the % of progressive motile sperm obtained in ejaculated. It is based on

8056-630: The gene that is described in terms of DNA sequence. There are many different definitions of this gene — some of which are misleading or incorrect. Very early work in the field that became molecular genetics suggested the concept that one gene makes one protein (originally 'one gene - one enzyme'). However, genes that produce repressor RNAs were proposed in the 1950s and by the 1960s, textbooks were using molecular gene definitions that included those that specified functional RNA molecules such as ribosomal RNA and tRNA (noncoding genes) as well as protein-coding genes. This idea of two kinds of genes

8162-421: The genome. The vast majority of organisms encode their genes in long strands of DNA (deoxyribonucleic acid). DNA consists of a chain made from four types of nucleotide subunits, each composed of: a five-carbon sugar ( 2-deoxyribose ), a phosphate group, and one of the four bases adenine , cytosine , guanine , and thymine . Two chains of DNA twist around each other to form a DNA double helix with

8268-421: The genomes of complex multicellular organisms , including humans, contain an absolute majority of DNA without an identified function. This DNA has often been referred to as " junk DNA ". However, more recent analyses suggest that, although protein-coding DNA makes up barely 2% of the human genome , about 80% of the bases in the genome may be expressed, so the term "junk DNA" may be a misnomer. The structure of

8374-428: The high level of DNA compaction in these cells, human spermatozoa possess a truncated base excision repair pathway that is mediated by 8-oxoguanine DNA glycosylase 1 (OGG1) . Thus mature spermatozoa appear to have a limited capacity to mount a DNA repair response to oxidative stress . Glycoprotein molecules on the surface of ejaculated sperm cells are recognized by all human female immune systems, and interpreted as

8480-477: The intermediate template for the synthesis of a protein. The transmission of genes to an organism's offspring , is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype , that is specific to every given individual, within the gene pool of the population of a given species . The genotype, along with environmental and developmental factors, ultimately determines

8586-412: The largest known spermatozoon found in nature. Drosophila melanogaster produces sperm that can be up to 1.8 mm, while its relative Drosophila bifurca produces the largest known spermatozoon, measuring over 58 mm in length. In Drosophila melanogaster , the entire sperm, tail included, gets incorporated into the oocyte cytoplasm , however, for Drosophila bifurca only a small portion of

8692-512: The mature spermatozoon; the distal centriole disappears after axoneme assembly. The proximal centriole enters into the egg during fertilisation and starts the first cleavage division of the egg, which has no centriole. The distal centriole gives rise to the axial filament which forms the tail and has a (9+2) arrangement. A transitory membrane called the Manchette lies in the middle piece. Middle piece: It has 10–14 spirals of mitochondria surrounding

8798-436: The next step will be intrauterine insemination and later conventional in vitro fertilization . With less than 1.0×10 progressive motile sperm per milliliter, we will perform intracytoplasmic sperm injection . In case of azoospermia (no spermatozoa in the ejaculate), we will do a testicular biopsy in order to check if there are spermatozoa in the testes or if no spermatozoa are being produced. Gene In biology ,

8904-413: The nucleus. Splicing, followed by CPA, generate the final mature mRNA , which encodes the protein or RNA product. Many noncoding genes in eukaryotes have different transcription termination mechanisms and they do not have poly(A) tails. Many prokaryotic genes are organized into operons , with multiple protein-coding sequences that are transcribed as a unit. The genes in an operon are transcribed as

9010-588: The oocyte is a product of female gametogenesis , the maternal contribution to the oocyte and consequently the newly fertilized egg, is enormous. There are many types of molecules that are maternally supplied to the oocyte, which will direct various activities within the growing zygote . The DNA of a cell is vulnerable to the damaging effect of oxidative free radicals produced as byproducts of cellular metabolism. DNA damage occurring in oocytes, if not repaired, can be lethal and result in reduced fecundity and loss of potential progeny. Oocytes are substantially larger than

9116-427: The oocyte is said to have become activated . It undergoes its secondary meiotic division, and the two haploid nuclei (paternal and maternal) fuse to form a zygote . In order to prevent polyspermy and minimise the possibility of producing a triploid zygote, several changes to the egg's zona pellucida renders them impenetrable shortly after the first sperm enters the egg. Spermatozoa can be stored in diluents such as

9222-477: The oocytes of the African clawed frog . The oocyte receives mitochondria from maternal cells, which will go on to control embryonic metabolism and apoptotic events. The partitioning of mitochondria is carried out by a system of microtubules that will localize mitochondria throughout the oocyte. In certain organisms, such as mammals, paternal mitochondria brought to the oocyte by the spermatozoon are degraded through

9328-434: The other half of the zygotic genome . In some species, the spermatozoon will also contribute a centriole , which will help make up the zygotic centrosome required for the first division. However, in some species, such as in the mouse, the entire centrosome is acquired maternally. Currently under investigation is the possibility of other cytoplasmic contributions made to the embryo by the spermatozoon. During fertilization,

9434-529: The ovary with the egg and support it as it grows. The initial change is called "hyperactivation", which causes a change in spermatozoa motility. They swim faster and their tail movements become more forceful and erratic. A recent discovery links hyperactivation to a sudden influx of calcium ion into the tails. The whip-like tail (flagellum) of the sperm is studded with ion channels formed by proteins called CatSper . These channels are selective, allowing only calcium ions to pass. The opening of CatSper channels

9540-461: The ovum. Head: It has a compact nucleus with only chromatic substance and is surrounded by only a thin rim of cytoplasm. Above the nucleus lies a cap-like structure called the acrosome , formed by modification of the Golgi body, which secretes the enzyme spermlysin ( hyaluronidase, corona-penetrating enzyme, zona lysin, or acrosin ), that is necessary for fertilization. As the spermatozoon approaches

9646-431: The phosphate–sugar backbone spiralling around the outside, and the bases pointing inward with adenine base pairing to thymine and guanine to cytosine. The specificity of base pairing occurs because adenine and thymine align to form two hydrogen bonds , whereas cytosine and guanine form three hydrogen bonds. The two strands in a double helix must, therefore, be complementary , with their sequence of bases matching such that

9752-420: The posterior end the axial filament is naked. The flagellum gives movement to the cell. Semen has an alkaline nature and the spermatozoa do not reach full motility (hypermotility) until they reach the vagina , where the alkaline pH is neutralized by acidic vaginal fluids. This gradual process takes 20–30 minutes. During this period, fibrinogen from the seminal vesicles forms a clot, securing and protecting

9858-556: The recovery percentage. Depending on the percentage, we will decide the quality of the motile spermatozoa recovery: 15 to 25 million sperm/ml is considered optimal, between 5 and 15 million is considered enough and less than 5 million is considered sub-optimal or not sufficient. Regarding the values that we have obtained, along with the spermiogram results, different techniques will be displayed. For example, if more than 1.0×10 progressive motile sperm per milliliter are found, it will be recommended to have sexual intercourse, and if that fails,

9964-420: The sea, making them well-suited as model organisms for experiments. The spermatozoa of marsupials are usually longer than those of placental mammals . The gametophytes of bryophytes , ferns and some gymnosperms produce motile sperm cells, contrary to pollen grains employed in most gymnosperms and all angiosperms . This renders sexual reproduction in the absence of water impossible, since water

10070-402: The sperm to fuse with the egg. ZP3, one of the proteins that make up the zona pellucida, then binds to a partner molecule on the sperm. Enzymes on the inner acrosomal membrane digest the zona pellucida. After the sperm penetrates the zona pellucida, part of the sperm's cell membrane then fuses with the egg cell's membrane, and the contents of the head diffuse into the egg. Upon penetration,

10176-423: The sperm. Just as they become hypermotile, fibrinolysin from the prostate gland dissolves the clot, allowing the sperm to progress optimally. The spermatozoon is characterized by a minimum of cytoplasm and the most densely packed DNA known in eukaryotes . Compared to mitotic chromosomes in somatic cells , sperm DNA is at least sixfold more highly condensed. The specimen contributes with DNA / chromatin ,

10282-467: The strand of DNA like a train on a monorail, transcribing it into its messenger RNA form. This point brings us to our second important criterion: A true gene is one that is both transcribed and translated. That is, a true gene is first used as a template to make transient messenger RNA, which is then translated into a protein. This restricted definition is so common that it has spawned many recent articles that criticize this "standard definition" and call for

10388-461: The sugar ribose rather than deoxyribose . RNA also contains the base uracil in place of thymine . RNA molecules are less stable than DNA and are typically single-stranded. Genes that encode proteins are composed of a series of three- nucleotide sequences called codons , which serve as the "words" in the genetic "language". The genetic code specifies the correspondence during protein translation between codons and amino acids . The genetic code

10494-463: The surface membrane even in the case of human sperms. Mammalian sperm cells become even more active when they approach an egg cell in a process called sperm activation . Sperm activation has been shown to be caused by calcium ionophores in vitro , progesterone released by nearby cumulus cells and binding to ZP3 of the zona pellucida . The cumulus cells are embedded in a gel-like substance made primarily of hyaluronic acid , and developed in

10600-424: The tail enters the oocyte. The wood mouse Apodemus sylvaticus possesses spermatozoa with falciform morphology. Another characteristics which makes these gametocytes unique is the presence of an apical hook on the sperm head. This hook is used to attach to the hooks or to the flagella of other spermatozoa. Aggregation is caused by these attachments and mobile trains result. These trains provide improved motility in

10706-805: The term gemmule to describe hypothetical particles that would mix during reproduction. Mendel's work went largely unnoticed after its first publication in 1866, but was rediscovered in the late 19th century by Hugo de Vries , Carl Correns , and Erich von Tschermak , who (claimed to have) reached similar conclusions in their own research. Specifically, in 1889, Hugo de Vries published his book Intracellular Pangenesis , in which he postulated that different characters have individual hereditary carriers and that inheritance of specific traits in organisms comes in particles. De Vries called these units "pangenes" ( Pangens in German), after Darwin's 1868 pangenesis theory. Twenty years later, in 1909, Wilhelm Johannsen introduced

10812-436: The term gene , he explained his results in terms of discrete inherited units that give rise to observable physical characteristics. This description prefigured Wilhelm Johannsen 's distinction between genotype (the genetic material of an organism) and phenotype (the observable traits of that organism). Mendel was also the first to demonstrate independent assortment , the distinction between dominant and recessive traits,

10918-412: The term "gene" (inspired by the ancient Greek : γόνος, gonos , meaning offspring and procreation) and, in 1906, William Bateson , that of " genetics " while Eduard Strasburger , among others, still used the term "pangene" for the fundamental physical and functional unit of heredity. Advances in understanding genes and inheritance continued throughout the 20th century. Deoxyribonucleic acid (DNA)

11024-469: The word gene has two meanings. The Mendelian gene is a basic unit of heredity . The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA . There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of RNA or protein from a gene), DNA is first copied into RNA . RNA can be directly functional or be

11130-446: Was first suggested by Gregor Mendel (1822–1884). From 1857 to 1864, in Brno , Austrian Empire (today's Czech Republic), he studied inheritance patterns in 8000 common edible pea plants , tracking distinct traits from parent to offspring. He described these mathematically as 2  combinations where n is the number of differing characteristics in the original peas. Although he did not use

11236-430: Was shown to be the molecular repository of genetic information by experiments in the 1940s to 1950s. The structure of DNA was studied by Rosalind Franklin and Maurice Wilkins using X-ray crystallography , which led James D. Watson and Francis Crick to publish a model of the double-stranded DNA molecule whose paired nucleotide bases indicated a compelling hypothesis for the mechanism of genetic replication. In

#176823