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Sex determining region Y
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| PDB rendering based on 1hry. The Protein Data Bank ( PDB) is a repository for 3-D structural data of Proteins and Nucleic acids These data typically obtained by X-ray crystallography | ||
| Available structures: 1hry, 1hrz, 1j46, 1j47 | ||
| Identifiers | ||
| Symbol(s) | SRY; TDF; TDY | |
| External IDs | OMIM: 480000 MGI: 98660 HomoloGene: 48168 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 6736 | 21674 |
| Ensembl | ENSG00000184895 | ENSMUSG00000069036 |
| Uniprot | Q05066 | Q2T9H0 |
| Refseq | NM_003140 (mRNA) NP_003131 (protein) |
NM_011564 (mRNA) NP_035694 (protein) |
| Location | Chr Y: 2.71 - 2.72 Mb | Chr Y: 1.95 - 1.95 Mb |
| Pubmed search | [1] | [2] |
SRY (Sex-determining Region Y) is a sex-determining gene on the Y chromosome in humans and other primates. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles An organism's sex is defined by the gametes it produces males produce male gametes (spermatozoa or Sperm) while females produce female gametes (ova or Egg cells; individual History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance The Y chromosome is the sex-determining Chromosome in most Mammals including Humans In mammals it contains the gene SRY, which triggers Human beings, humans or man (Origin 1590–1600 L homō man OL hemō the earthly one (see Humus A primate is a member of the biological order Primates ( Latin: "prime first rank" the group that contains Lemurs the Aye-aye
The SRY gene encodes the testis determining factor, which is also referred to as the SRY protein. Testis-determining factor ( TDF) is a general term for the Gene (or product thereof that results in Maleness in humans and some other species
This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. Swyer syndrome, or XY gonadal dysgenesis, is a type of Hypogonadism in which no functional Gonads are present to induce Puberty in an externally XX male syndrome (also called de la Chapelle syndrome) is a rare sex chromosomal disorder [1]
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Impact upon anatomical sex
Since its discovery, the importance of the SRY gene in sex determination has been extensively documented:
- Humans with one Y chromosome and multiple X chromosomes (XXY, XXXY etc. The X chromosome is one of the two sex-determining Chromosomes in many animal species including mammals (the other is the Y chromosome) Klinefelter's syndrome, 47XXY or XXY syndrome is a condition caused by a Chromosome Aneuploidy. ) are usually males.
- Individuals with a male phenotype and an XX (female) genotype have been observed; these males have the SRY gene in one or both X chromosomes, moved there by chromosomal translocation. A phenotype is any observable characteristic of an Organism, such as its morphology, Development, biochemical or physiological properties The genotype is the genetic constitution of a cell an organism or an individual (i In Genetics, a chromosome translocation is a Chromosome abnormality caused by rearrangement of parts between nonhomologous Chromosomes. (However, these males are infertile. )
- Similarly, there are females with an XXY or XY genotype. These females have no SRY gene in their Y chromosome, or the SRY gene exists but is defective (mutated).
SRY and the Olympics
One of the most controversial uses of this discovery was as a means for gender verification at the Olympic Games, under a system implemented by the International Olympic Committee in 1992. Gender verification in sports (also sometimes loosely referred to as sex determination) is the issue of verifying the eligibility of an athlete to compete in a sporting The Olympic Games is an international Multi-sport event established for both summer and winter games Year 1992 ( MCMXCII) was a Leap year starting on Wednesday (link will display full 1992 Gregorian calendar) Athletes with a SRY gene were not permitted to participate as females, although all athletes in whom this was "detected" at the 1996 Summer Olympics were ruled false positives and were not disqualified. The 1996 Summer Olympics, officially known as the Games of the XXVI Olympiad and unofficially known as the Centennial Olympics, were an International In Statistics, the terms Type I error (also α error, or false positive) and type II error ( β error, or a false negative In the late 1990s, a number of relevant professional societies in United States called for elimination of gender verification, including the American Medical Association, the American Academy of Pediatrics, the American College of Physicians, the American College of Obstetricians and Gynecologists, the Endocrine Society and the American Society of Human Genetics, stating that the method used was uncertain and ineffective. The American Medical Association (AMA founded in 1847 and incorporated 1897 is the largest association of Physicians and Medical students in the United States The American Academy of Pediatrics ( AAP) is an organization of Pediatricians physicians trained to deal with the medical care of infants children and adolescents The American College of Physicians (ACP is a national organization of doctors of Internal medicine (internists physicians who specialize in the prevention detection and treatment The American College of Obstetricians and Gynecologists ( ACOG) is a Professional association of Medical doctors specializing in Obstetrics and The Endocrine Society is a professional international medical organization in the field of Endocrinology and Metabolism, founded in 1916 as The Association for the [2] The screening was eliminated as of the 2000 Summer Olympics. "I am proud and happy to proclaim that you have presented to the world the best Olympic Games ever [2][3][4]
SRY-related diseases and defects
Individuals with XY genotype and functional SRY gene can have a female phenotype, where the underlying cause is androgen insensitivity syndrome (AIS). A phenotype is any observable characteristic of an Organism, such as its morphology, Development, biochemical or physiological properties Androgen insensitivity syndrome (AIS also referred to as androgen resistance syndrome, is a set of disorders of Sexual differentiation caused by Mutations
SRY has been linked to the fact that men are more likely than women to develop dopamine-related diseases such as schizophrenia and Parkinson's disease. Dopamine is a Hormone and Neurotransmitter occurring in a wide variety of animals including both vertebrates and invertebrates Schizophrenia ( from the Greek roots schizein (σχίζειν "to split" and phrēn Parkinson's disease (also known as Parkinson disease or PD) is a degenerative disorder of the Central nervous system that often impairs the sufferer's SRY makes a protein that controls concentrations of dopamine, the neurotransmitter that carries signals from the brain that control movement and coordination. [5][6]
See also
References
- ^ Entrez Gene: SRY sex determining region Y. The Y chromosome is the sex-determining Chromosome in most Mammals including Humans In mammals it contains the gene SRY, which triggers A sex-determination system is a biological system that determines the development of sexual characteristics in an Organism. Testis-determining factor ( TDF) is a general term for the Gene (or product thereof that results in Maleness in humans and some other species
- ^ a b Facius, Georg M. (August 2004). The Major Medical Blunder of the 20th Century. Bodies Like Ours. Retrieved on May 30, 2006. Events 1416 - The Council of Constance, called by the Emperor Sigismund a supporter of Antipope John XXIII burns Jerome of Prague following Year 2006 ( MMVI) was a Common year starting on Sunday of the Gregorian calendar.
- ^ Elsas, LJ; Ljungqvist A, Ferguson-Smith MA, Simpson JL, Genel M, Carlson AS, Ferris E, de la Chapelle A, Ehrhardt AA (July-August 2000). "Gender verification of female athletes". Genetics in Medicine 2 (4): 249-54. PMID 11252710.
- ^ Dickinson, BD; Genel M, Robinowitz CB, Turner PL, Woods GL (October 2002). "Gender verification of female Olympic athletes". Medicine & Science in Sports & Exercise 34 (10): 1543. PMID 12370551.
- ^ Dewing, P; Chiang CW, Sinchak K, Sim H, Fernagut PO, Kelly S, Chesselet MF, Micevych PE, Albrecht KH, Harley VR, Vilain E (Feb 21 2006). "Direct regulation of adult brain function by the male-specific factor SRY". Current Biology 16 (4): 415-20. PMID 16488877.
- ^ Haaxma, C. , et al. (Feb. 22-26, 2006). "Gender differences in Parkinson's disease". 1st World Parkinson Congress.
Further reading
- Haqq CM, King CY, Ukiyama E, et al. (1995). "Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. ". Science 266 (5190): 1494-500. PMID 7985018.
- Goodfellow PN, Lovell-Badge R (1994). "SRY and sex determination in mammals. ". Annu. Rev. Genet. 27: 71-92. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 8122913.
- Hawkins JR (1994). "Mutational analysis of SRY in XY females. ". Hum. Mutat. 2 (5): 347-50. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 8257986.
- Harley VR (2002). "The molecular action of testis-determining factors SRY and SOX9. ". Novartis Found. Symp. 244: 57-66; discussion 66-7, 79-85, 253-7. PMID 11990798.
- Jordan BK, Vilain E (2003). "Sry and the genetics of sex determination. ". Adv. Exp. Med. Biol. 511: 1-13; discussion 13-4. PMID 12575752.
- Oh HJ, Lau YF (2006). "KRAB: a partner for SRY action on chromatin. ". Mol. Cell. Endocrinol. 247 (1-2): 47-52. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16414182.
- Polanco JC, Koopman P (2007). "Sry and the hesitant beginnings of male development. ". Dev. Biol. 302 (1): 13-24. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16996051.
- Hawkins JR, Taylor A, Berta P, et al. (1992). "Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. ". Hum. Genet. 88 (4): 471-4. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 1339396.
- Hawkins JR, Taylor A, Goodfellow PN, et al. (1992). "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. ". Am. J. Hum. Genet. 51 (5): 979-84. PMID 1415266.
- Ferrari S, Harley VR, Pontiggia A, et al. (1992). "SRY, like HMG1, recognizes sharp angles in DNA. ". EMBO J. 11 (12): 4497-506. PMID 1425584.
- Jäger RJ, Harley VR, Pfeiffer RA, et al. (1993). "A familial mutation in the testis-determining gene SRY shared by both sexes. ". Hum. Genet. 90 (4): 350-5. PMID 1483689.
- Vilain E, McElreavey K, Jaubert F, et al. (1992). "Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. ". Am. J. Hum. Genet. 50 (5): 1008-11. PMID 1570829.
- Müller J, Schwartz M, Skakkebaek NE (1992). "Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. ". J. Clin. Endocrinol. Metab. 75 (1): 331-3. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 1619028.
- McElreavey KD, Vilain E, Boucekkine C, et al. (1992). "XY sex reversal associated with a nonsense mutation in SRY. ". Genomics 13 (3): 838-40. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 1639410.
- Sinclair AH, Berta P, Palmer MS, et al. (1990). "A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. ". Nature 346 (6281): 240-4. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 1695712.
- Berkovitz GD, Fechner PY, Zacur HW, et al. (1991). "Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. ". Medicine (Baltimore) 70 (6): 375-83. PMID 1956279.
- Berta P, Hawkins JR, Sinclair AH, et al. (1991). "Genetic evidence equating SRY and the testis-determining factor. ". Nature 348 (6300): 448-50. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 2247149.
- Jäger RJ, Anvret M, Hall K, Scherer G (1991). "A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. ". Nature 348 (6300): 452-4. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 2247151.
- Ellis NA, Goodfellow PJ, Pym B, et al. (1989). "The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. ". Nature 337 (6202): 81-4. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 2909893.
- Whitfield LS, Hawkins TL, Goodfellow PN, Sulston J (1995). "41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome. ". Genomics 27 (2): 306-11. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 7557997.
External links
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