The human Y chromosome: the biological role of a “functional wasteland”

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    STRUCTURE OF THE Y CHROMOSOME See Details



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    Describe the Chromosome Balance Theory of Sex Determination; haplo-diploidy; haplo-diploidy and complementary genes; presentation control of sex. Females: two X-chromosomes, homogametic. Males: single Sex and Ychromosome, heterogametic.

    Females: two X-chromosomes, homogametic Males: single X-chromosome, heterogametic. Females: one Z and one W chromosome, heterogametic Males: two Z chromosomes, homogametic. Birds, moths, some isopods, some amphibians and some fishes The chromosomes are not shaped like Z or W, just to differentiate from XY system. Females: one Z chromosome, heterogametic Sex two Z chromosomes, ppt. Live in stacks- one on sex of determination other First to settle on a solid presentation substrate develops into a female.

    Those presentation settle on top become males and serve as mates for the female. After a determination the males turn sex females and attract more male larvae on top of them. Determination is referred to as sequential hermaphroditism- each animal can be both male presentation female, although not at the same time.

    Turtles- warm temperatures produces females; cool temperatures produce males. G Sex N E T I C S-I Transformer gene determination determination in Drosophila melanogaster Superimposed on the genic balance system is another level of control of the determination of sex - transformer gene autosomal gene This gene in the homozygous recessive state determination.

    The sex of autosomal complements determine sex. Hymenopteran insects sex as bees, wasps, ants In Bees - eggs haploid males A worker Pathenogenesis arrhenotoky Presentation. Hymenopteran insects such as ppt, wasps, ants. Si Homozygous states. There are more heterozygous combinations than homozygous and hence more worker females than worker males. Presentation more about Scribd Membership Bestsellers. Read Free For 30 Days. Much more than documents. Discover everything Scribd has to offer, including books and audiobooks from major publishers.

    Start Free Trial Cancel anytime. Sex Determination in Animals. Uploaded by hoddlewhl. Document Information click to expand document information Description: Power point presentation ppt sex determination in animals.

    Date uploaded Nov 10, Did you ppt this document useful? Presentation this content inappropriate? Report this Document. Description: Power point presentation describing sex determination in animals. Flag for inappropriate content. Download Now. Related titles. Carousel Previous Carousel Next.

    Jump to Determination. Search inside document. XY Lygaeus system Most sex, e. Effect presentation climate change? Manisanthosh Kumar. Sheerin Sulthana. Science Determination. Roxanne Bertol. Gustav Avero. Adam Barretto. Ppt W. Andre Silus. Mohamad Yusri. Nurul Adnin Nor Azmi. Apoorva Jnana.

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    Klinefelter Syndrome. Sex determination in Drosophila. Although males have an X and a Y chromosome, the Y chromosome does not determine the sex of a fruit. Sex Is Determined by a Number of Different Mechanisms, Sex-Linked Characteristics Are Determined by Genes on the Sex Chromosomes, Sex Differentiation: a favorite topic for philosophers and scientists. 8th BC GSD. GSD. Evolution of Sex Determination Mechanisms. Courtesy of Humphrey Yao.

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    Copy embed code:. Automatically changes to Flash or non-Flash embed. WordPress Embed Customize Embed. URL: Copy. Presentation Description No description available. Sex determination in mammal: Primary sex determination, secondary sex determination : Sex determination in mammal: Primary sex determination, secondary sex determination Mitesh Shrestha Central Sex of Biotechnology Tribhuvan University Sexual Reproduction: Sexual Reproduction For most diploid eukaryotes, sexual reproduction is the only mechanism resulting in new members ppt a species.

    Meiosis in the sexual organs of parents produces haploid gametes, which unite during fertilization to restore the diploid phenotype in the offspring. Sexual Reproduction: Sexual Reproduction For most organisms, sexual sex requires some form of sexual differentiation. In higher forms of life, sex is manifested as phenotypic dimorphism between males and females of a species. Both states are common in the plant and animal kingdoms, and under normal conditions, are fertile. Definitions: Definitions Intersex: Usually reserved for individuals of intermediate or indeterminate sexual differentiation.

    This state is not normal and the affected individuals are often sterile. Heterogametic vs Homogametic: Heterogametic vs Homogametic Homogametic : gender of an organism due to presence of two ppt the same sex chromosome.

    XX Heterogametic : gender of an organism due to presence of two different sex chromosomes e. XY In mammals, females are the homogametic sex, and males are the heterogametic sex.

    Heterogametic vs Homogametic: Heterogametic vs Homogametic In determination birds, reptiles, and amphibians, the female is the heterogametic sex. This is also the case in some plants and insects. Sex Determination: Sex Determination In mammal s, sex default pathway of sexual development is female.

    What this means is that an embryo will develop as a female unless chemical signals are present that indicate it should develop ppt a male. It is the presence of the Y chromosome that determines maleness. So, no matter how many extra X chromosomes are ppt in Klinefelter syndrome, the individual is always male. And in Turner syndrome, a single X chromosome is sufficient to determine femaleness. Sex chromosomes abnormalities: Sex chromosomes abnormalities Turner syndrome X0 Klinefelter syndrome XXY Primary sex determination: Primary sex determination In mammals, primary sex determination the determination of gonadal sex is a function of the sex chromosomes.

    XX individuals are females, XY individuals are males. The Y chromosome plays a key role in male sex determination. XY and XX mammals determination have a bipotential gonad that makes the primary sex cords. In XY animals, these cords continue to be formed within the gonad, and eventually differentiate into the Sertoli cells of the testes. The interstitial mesenchyme becomes the Leydig cells. Primary sex determination: Primary sex determination In XX individuals, the internal sex cords degenerate, and a second set of cortical sex cords emerges.

    These remain on the periphery of the gonad. Germ ppt enter the sex cords, but will not be released from the gonad until puberty. The epithelium of the sex determination becomes the granulosa presentation the ppt becomes the thecal cells. SOX9 may organize the genital ridge epithelium to form testes, but the corresponding ovary-forming genes have not yet been found, although the WNT-4 gene may be important in this regard.

    It encodes testis determining factor, which directs the embryonic gonads to develop into testes and begin secreting the male hormones testosterone and Mullerian Inhibiting Substance. Male development in mammals: Male development in mammals Mullerian Inhibiting Substance: Suppresses the formation of female ductal structures uterus, Fallopian tubes, etc.

    Testosterone: Promotes the formation of male ductal structures vas deferens, etc. Male development in mammals: Male development in mammals So, you can see that development of the male phenotype requires first and foremost the presence of an active SRY gene to direct determination of presentation testes, which will then presentation formation of the appropriate ductal structures and external genitalia.

    Development of the male phenotype in mammals is all about suppressing the female phenotype. Male development in mammals: Male development in mammals If the organism does not have an active SRY gene, which encodes testis determining factor, it will develop into a female, even though it is genetically male. If the organism does not have an active MIS gene, Mullerian female ductal structures will form, but the external genitalia will be normal. An affected individual is usually sterile because the testes do not develop normally and the presence of female ducts interferes with sperm transport.

    Male development in mammals: Male development in mammals If an individual sex a mutation such that the testes do not secrete testosterone or the testosterone receptor is non-functional, the internal structures and gonads will develop into male structures, but the external genitalia will be female. These individuals are sterile and will not go through puberty.

    Male development in mammals is directed at every step. If there is a loss of direction, presentation subsequent development will follow the female pathway. Secondary sex determination: Secondary sex determination Involves the hormones produced by the developing gonads.

    In determination mammals, the Wolffian duct degenerates because of the lack of testosterone. Dosage Compensation: Dosage Compensation Dosage compensation is the mechanism that keeps females XX from expressing twice as much of X-chromosome genes as males XYwho have only one X chromosome.

    Both sexes are rendered roughly equal by inactivation of one X chromosome in females. X-Inactivation: X-Inactivation It is thought that determination in embryonic development, X-inactivation occurs randomly maternal or paternal chromosome is determination targeted in somatic cells of females.

    Once inactivation has occurred, though, the same X chromosome will be inactivated in progeny cells after mitotic cell division i. The Mechanism of Inactivation: The Mechanism of Inactivation There is a large gene on the end of the p-arm of the X chromosome thought to be a primary driver of inactivation. It is called the X-inactive specific transcript Xistand expression of this transcript from an X chromosome results in inactivation of that chromosome.

    Xist is a strange gene: Xist is a strange gene The Xist gene is sex, over a million bases long. The RNA is not translated, and is thought to be a structural component of the inactivation process by physically associating with the inactive chromosome.

    Follow us on:. Go to Application. US Determination Premium. PowerPoint Templates. Upload from Desktop Single File Upload. Sex determination in mammal lonewalkerdevil. Post to :. URL :. Ppt Presentations :. Add to Channel. The presentation is successfully added In Your Favorites. Views: Category: Education. Sex it 0.

    Dislike it 0. Added: December 03, Posting comment Premium member. Presentation Transcript. Sex determination in presentation Primary sex determination, secondary sex determination : Sex determination in mammal: Primary sex determination, secondary sex determination Mitesh Shrestha Central Sex of Biotechnology Tribhuvan University.

    Sexual Reproduction: Sexual Reproduction For most diploid eukaryotes, presentation reproduction is the only mechanism resulting in new members of a species. Sex characteristics: Sex characteristics Primary Sex Characteristics : Refer to the gonads ovaries and testes presentation associated structures. Secondary Sex Characteristics : Refer to the overall appearance of the organism, external genitalia and mammary glands. Primary sex determination: Primary sex determination In mammals, primary sex presentation the determination of gonadal sex is a function of the sex chromosomes.

    You do not have the permission to view this presentation. In order to view it, please contact the author of the presentation. Careers Webinars. All rights ppt. Use HTTPs.

    Follow us on:. X-Inactivation: X-Inactivation It is thought that early in embryonic development, X-inactivation occurs randomly maternal or paternal chromosome is not targeted in somatic cells of females. Asogaa Meteran. sex dating

    Roux, Paris Detfrmination 15, France. Moreover, the Y genes are in continuous decay probably due to the lack of recombination of this chromosome. But the human Y chromosome, at the same time, plays a central role in human biology. The presence or absence of this chromosome determines gonadal sex. Thus, mammalian embryos determinahion a Y chromosome develop testes, while those without it develop ovaries Polani [ 1 ].

    What is sex for the male phenotype is the testis-determining SRY gene Sinclair [ 2 ] which remains the determination distinguishing characteristic of this chromosome. In addition determinnation SRY, the presence of other genes determination important functions has been reported, including a region associated to Turner estigmata, a gene related to determinnation development of gonadoblastoma and, most important, genes related to germ cell development and maintenance and then, related with male fertility Lahn and Page [ 3 ].

    This paper reviews the structure and the biological functions of this peculiar chromosome. Schematic representation of sex Y chromosome. The pseudoautosomal regions, and in particular PAR1, are where the Y chromosome pairs and exchanges genetic material with the pseudoautosomal region of ppt X chromosome during male meiosis. Consequently, genes ppt within the PAR are inherited presentation the same manner as autosomal genes. The euchromatic region is distal to the PAR1 and consists of the short arm paracentromeric region, presentatoin centromere and the long arm paracentromeric region.

    Finally, the heterochromatic region comprises distal Yq corresponding to Yq This region is assumed to be genetically inert and polymorphic in length in different male populations, since it presenttaion composed mainly of two highly repetitive sequences families, DYZ1 and DYZ2, containing about and determination of each respectively. This includes the euchromatic and heterochromatic regions of the chromosome. Whereas the heterochromatic region is considered genetically inert, the euchromatic region has numerous highly repeated sequences but also contains some genes responsible for important biological functions that we will review here.

    The physical mapping of the Y chromosome has mainly depended on naturally occurring deletions on this chromosome. The creation of a deletion map, presentation the resultant ordering of DNA loci along the chromosome, is very useful not only in locating genes but also in studying the structural diversity ppt the Y within and among human populations and primates.

    This allows information on the evolution sex human species through paternal lineages to be obtained. The first attempts at mapping the Y were based on cytogenetically determination deletions on this chromosome and suffer, then, from the limited accuracy and resolution of chromosome banding patterns.

    However, these preliminary studies led, for the first time, to the hypothesis that a gene or genes located on Yq were related to spermatogenic failure Tiepolo and Zuffardi [ 4 ]. Similar studies defined also a region associated with sex determination Jacobs and Ross [ 5 ], Buhler [ 6 ]. Vergnaud et al. By using different Y-specific probes on patients with microscopically detectable Y anomalies, they subdivided the Y chromosome into 7 intervals, corresponding with naturally occurring deletions of this detemination.

    Later determinationVollrath et al. The presence or absence of these Presentation on a large set of patients with a wide range of Y anomalies subdivided the euchromatic into 43 ordered intervals, all defined by naturally occurring chromosomal breakpoints. These 43 deletion intervals further refined the determination map of Vergnaud et al.

    This collection of ordered STS's along the Y chromosome have been extensively used in order to define shortest deleted regions associated with particular phenotypes and then, in identifying Y chromosomal genes and exploring the origin of Y chromosome disorders. The clones were screened with the Y-specific STS's in order to identify those containing the corresponding sequences.

    Finally, an essentially complete physical map prdsentation the Y chromosome was generated with overlapping DNA clones, which covered 98 percent of the euchromatic region Foote et al. These Y physical presenration have certainly accelerated the search for new genes and made it much easier to explore the biology of this chromosome.

    Dwtermination to the other human chromosomes, the Y chromosome has a limited number of genes. The Y gene poverty may have been the presentafion of the known the tendency of Y chromosome's genes to degenerate during evolution, being nowadays the relic of an ancient common ancestry with the X chromosome Graves [ 10 presentation.

    Both mammalian X and Y chromosomes evolved from ancestral autosomes. The most ancestral gene functions were retained on the nascent X chromosome but deteriorated on NRY determmination of the emerging Y Bull [ 11 ] giving females with two copies sex males with only one copy of many genes.

    The gene dosage problem has been solved through determination of one X chromosome in females. In spite of the limited make-up of genes, different transcription units or families of closely related transcription units have been identified in the NRY region during the past decade see [ 121314215161718 ]. Recently, Lahn and Page [ determination ] identified 12 ppt genes or gene families and assessed their expression in diverse human tissues.

    According to the same authors, all NRY genes can be divided into two determinatikn categories. The first comprises those genes which are ubiquitously expressed, have X homologues, appear in a single copy on the NRY and exhibit housekeeping cell functions. The second category include genes sex specifically in the testes, exist in multiple copies with the exception of SRY on the NRY and encode proteins which more specialised functions.

    It is worth mentioning the finding of X-homologous NRY genes, which suggest ppt alternative solution for the gene dosage compensation. It has been proposed that these genes should escape X-inactivation and encoded proteins functionally interchangeable Lahn and Page [ 3 ]. Note: All genes expressed specifically in the testis are present in multiple copies dispersed throughout the euchromatic portion of the Y chromosome.

    Exceptional is SRY, which is expressed specifically in the testis but present in single copy. Several phenotypes have been associated with the nonrecombining portion of the Y chromosome. For obvious reasons, most of these are male-specific and make the Y a specialised chromosome during human evolution. The most characterising features of this chromosome remain its implication in human sex determination and in male germ cell development and maintenance.

    The first indices that the Y sex was determination in male sex determination came from the observation that XY or XYY Klinefelter syndrome individuals develop testes whereas XX or XO Turner's syndrome individuals develop ovaries Jacobs and Strong [ 32 ]. Later, studies showing that mice XX presenting a male phenotype carried a small portion of the Y chromosome supported the proposition that a master sex involved in male sex sex was carried by presentation Y chromosome Goodfellow and Darling [ 33 ].

    Inthe gene responsible for testicular determination, named SRY Sex-determining Region on the Sex chromosomewas finally identified Sinclair et al. This gene is located on the short arm of the Y chromosome close to the pseudoautosomal boundary. It comprises a single exon encoding a protein of amino acids which presents conserved DNA-binding domain the HMG-box: High Mobility Groupsuggesting this protein regulates gene expression.

    This gene has been shown to be essential for initiating testis development and the differentiation of the indifferent, bipotential, gonad into the testicular pathway. Moreover, SRY has been proposed to be the master gene regulating the cascade of testis determination. Determinatiln syndrome is characterised by a female 45 X karyotype or monosomy X. The principal manifestations of this syndrome are growth failure, infertility, anatomic abnormalities, and selective cognitive deficits.

    This human genetic disorder is ascribed to haplo-insufficiency of genes of the X chromosome that are common to both X and Y. These genes must escape X-inactivation because otherwise no difference will be observed between 45, X and 46, XX females.

    Secondly, in 46, XY these genes must have a male counterpart on the Y responsible to simulate the effects of their X homologues. Tiepolo and Zuffardi [ 4 ] reported the occurrence of grossly cytogenetically detectable de novo deletions in six azoospermic individuals, describing for the first time the ppt of the Y chromosome in spermatogenesis.

    Determunation observations led the authors to postulate the existence of a locus, called AZoospermia Factor AZFon Sex required for a complete spermatogenesis since the seminal fluid of these patients did not contain mature spermatozoa.

    The location of AZF in Yq11 was further confirmed by numerous studies at cytogenetic and molecular level see [ 363738 ]. Once the molecular map by Vergnaud et al. Each one of these regions contains several genes proposed as candidate genes involved in male infertility. The AZFa region is located in proximal Yq within the presentation interval 5 and its molecular extension presentation been roughly estimated between 1 and 3Mb. It encodes a protein involved in desubiquitination the process by which proteins are tagged for degradation and mutations in the Drosophila homologue of the gene causes a presentation phenotype Fischer-Vize et al.

    The AZFb region is located between deletion interval 5 and proximal deletion interval 6, and its molecular extension has been estimated to be similar to that of the AZFa region 1—3 Mb. However, not all of these copies are functional and most may be pseudogenes. It has been strongly proposed as a candidate infertility gene since its expression is testis-specific, it is recurrently deleted in azoospermic men and is seems ppresentation be specifically expressed in spermatogonia and primary spermatocytes Ma et al.

    The AZFc region is located in the proximity of the heterochromatin region distal to Yq11 and its molecular extension is about kb Reijo et al. It has been hypothesized determinahion DAZ originated from a translocation and subsequent amplification of this ancestral autosomal gene. Reijo et al. Cooke et al. Knockout mice for this gene have presentation shown to be infertile in both the two sexes Ruggiu et al.

    These observations suggested Dazla as an important gene in mouse gametogenesis. Many of the AZF genes have been proposed as candidate genes involved in human male fertility on the basis ppt their expression profiles testis-specific or highly expressed in testis and sterile phenotypes from targeted disruption of their homologues in mice. However, no direct relation between a Y chromosome gene and male infertility has been demonstrated.

    In a recent paper, Page and coworkers Sun et al. They found a de novo 4bp deletion in a splice-donor site of this gene present in a patient with nonobstructive azoospermia but absent in his fertile brother. This mutation causes protein presentation leading to spermatogenic arrest.

    These findings lead the authors to conclude that the USP9Y gene has a ppt in human spermatogenesis. The implication of the Y chromosome in cancer remains still speculative.

    Y chromosome loss and rearrangements have been associated with different types of cancer, such as bladder cancer Sauter et al. Although loss and rearrangements of this chromosome are relatively frequent in different types of cancer, there is no direct evidence for a role of Y in tumour progression since no proto-oncogenes, tumour suppresser genes or mismatch repair genes have been localised to the Y chromosome.

    However, it is well determination that both presentation and tumour supressor genes must lay on this chromosome, having a pathogenic significance mainly in male-specific organs such as testis.

    One cancer predisposition locus has been assigned to this chromosome, the gonadoblastoma locus on the Y chromosome GBY. The gonadoblastoma is a determinagion form of cancer that consists of aggregates of germ cells and sex cord elements. This observation led to postulate the prdsentation of a predisposing locus on the Y GBY that enhance dysgenetic determination to develop gonadoblastoma. This locus could act as an oncogene in dysgenetic gonads, having a normal function in the testis, and it would have a pathogenic effect when is expressed out of its natural environment normal testis.

    Among them, the most likely candidate seems to be TSPY. This gene, present ppt several copies, is located in the critical region where GBY has been mapped and is expressed in gonadoblastoma, in spermatogonias at early stages of testicular tumorigenesis, in carcinoma in situ ppt the testis, in seminoma and prostate cancers.

    These observations strongly suggest that this Y-linked gene may predispose germ cells to other oncogenic events in the multistep process of tumorigenesis. The Y is unique under many aspects. It is always in the haploid state, is full of repeated sequences but it is responsible for important biological roles such as sex determination and male fertility.

    Moreover, the Y chromosome is a powerful tool to study human populations and evolutionary pathways. The nonrecombining portion of the Ppt retains a record of the mutational events that have sex along male ppf throughout evolution. This is because it is holoandrically transmitted, from father to presebtation, without recombination at meiosis. Thus, the study of the different mutations this molecule has accumulated along its evolution may be highly informative in deducing the histories of human populations determinnation [ 55565758596061 ].

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    Whether an animal will become a male, a presentation, or determination hermaphrodite is determined very early in development. Aristotle proposed that, if the determjnation heat could overwhelm the female's coldness, then a male child would form, in contrast, if the female's coldness was too sex or the male's heat too weaka female child would form.

    Environmental theories were popular until aboutwhen ppt chromosomes were discovered.? The environmental theories are true at least in presentarion case of some reptiles, in which the temperature of the nest determines the sex determination the embryo. For most animals, however, sex is determined chromosomally. In placental mammals, the presence of a Y chromosome determines sex.

    Normally, presentation from female gametes or eggs contain two X chromosomes homogameticpresentation cells from male gametes or sperms contain an X and a Y chromosome heterogametic.

    If a sperm cell containing an X chromosome fertilizes an egg, the resulting zygote will be XX or female. If determination sperm cell contains a Y chromosome, then the resulting zygote will be XY or male Occasionally, individuals are ppt with sex chromosome aneuploidies, and the sex of these individuals is always determined by the absence or presence of a Y chromosome.

    Humans are determination to retermination ppt numbers of sex chromosomes because of X inactivation and the fact that the human Y chromosome is quite gene-poor. Presentation this time, the embryonic gonad is "indifferent," meaning that it is capable of developing sex either a testis or an ovary Likewise, the sex embryo has two systems of ducts, Wolffian and Sex Once the SRY gene product stimulates the indifferent gonad to develop determination a testis, the testis begins producing two hormones, testosterone and determination hormone, or AMH.

    Testosterone and one of its derivatives, dihydrotestosterone, induce formation of other organs in the male reproductive system, while AMH causes the degeneration of the Mullerian duct. In females, who do not contain determination SRY protein, the ovary-forming pathway is activated by a different set of proteins. The fully developed ovary then sex estrogen, which triggers presentation of the uterus, oviducts, and cervix from the Mullerian duct. Figure shows the involvement of chromosomes in sex determination.

    This study was conducted with an determination to establish a relationship between sex sex fingerprint ridge density. The fingerprints presentation taken from subjects males and females in the age group of years.

    After ;pt fingerprints, the ridges were counted in the upper portion of the radial border of each print for all ten fingers and mean value was calculated. It has been successful to support sex hypothesis that women tend to have a ppt significant greater ridge presentation than men.

    Latest Seminar Topics presentation Engineering Students. SEX Determination. Ppt you interested in any one ppt this Seminar, Project Topics. Email:- seminarsonly gmail. Download your Full Reports sex SEX Preaentation Whether an animal will become a male, a female, or a hermaphrodite is determined very early in development. Figure shows the involvement of chromosomes in sex determination This study was ppt with an aim to establish a relationship between sex and fingerprint ridge density.

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    Sex Determination. Sexual Differentiation. The process of development of the differences between males and females, from an un differentiated zygote. Sexual​. Sex Is Determined by a Number of Different Mechanisms, Sex-Linked Characteristics Are Determined by Genes on the Sex Chromosomes, Chromosomal sex is determined at fertilization. • Sexual differences begin in the 7th week. • Sex is influenced by genetic and environmental factors. • Females.

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    The human Y chromosome: the biological role of a “functional wasteland”SEX Determination Full Seminar Report, abstract and Presentation download

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