SRY


SRY

SRY (Sex-determining Region Y) is a sex-determining gene on the Y chromosome in the therians (placental mammals and marsupials).cite journal | author = Wallis MC, Waters PD, Graves JA | title = Sex determination in mammals - Before and after the evolution of SRY | journal = Cell. Mol. Life Sci. | volume = | issue = | pages = | year = 2008 | month = June | pmid = 18581056 | doi = 10.1007/s00018-008-8109-z | url = | issn = ]

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), also referred to as the SRY protein, 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. [cite web | title = Entrez Gene: SRY sex determining region Y| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6736| accessdate = ]

Effect 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.) 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. (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).

RY 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. 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. 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 screening was eliminated as of the 2000 Summer Olympics.cite web | last = Facius | first = Georg M. | month = August | year = 2004 | url = http://www.bodieslikeours.org/index.php?option=content&task=view&id=242 | title = The Major Medical Blunder of the 20th Century | publisher = Bodies Like Ours | accessdate = May 30 | accessyear = 2006] [cite journal | first = LJ | last = Elsas | coauthors = Ljungqvist A, Ferguson-Smith MA, Simpson JL, Genel M, Carlson AS, Ferris E, de la Chapelle A, Ehrhardt AA | year = 2000 | month = July-August | title = Gender verification of female athletes | journal = Genetics in Medicine | volume = 2 | issue = 4 | pages = 249–54 | pmid = 11252710 | doi = 10.1097/00125817-200007000-00008] [cite journal | first = BD | last = Dickinson | coauthors = Genel M, Robinowitz CB, Turner PL, Woods GL | year = 2002 | month = October | title = Gender verification of female Olympic athletes | journal = Medicine & Science in Sports & Exercise | volume = 34 | issue = 10 | pages = 1543 | pmid = 12370551 | doi = 10.1097/00005768-200210000-00002]

RY-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).

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. SRY makes a protein that controls concentrations of dopamine, the neurotransmitter that carries signals from the brain that control movement and coordination. [cite journal | first = P | last = Dewing | coauthors = Chiang CW, Sinchak K, Sim H, Fernagut PO, Kelly S, Chesselet MF, Micevych PE, Albrecht KH, Harley VR, Vilain E | year = 2006 | month = Feb 21 | title = Direct regulation of adult brain function by the male-specific factor SRY | journal = Current Biology | volume = 16 | issue = 4 | pages = 415–20 | pmid = 16488877 | doi = 10.1016/j.cub.2006.01.017] cite journal | author = Haaxma CA, Bloem BR, Borm GF, Oyen WJ, Leenders KL, Eshuis S, Booij J, Dluzen DE, Horstink MW | title = Gender differences in Parkinson's disease | journal = J. Neurol. Neurosurg. Psychiatr. | volume = 78 | issue = 8 | pages = 819–24 | year = 2007 | month = August | pmid = 17098842 | doi = 10.1136/jnnp.2006.103788 | url = | issn = ]

ee also

*Y chromosome
*Sex-determination system
*Testis-determining factor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Haqq CM, King CY, Ukiyama E, "et al." |title=Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. |journal=Science |volume=266 |issue= 5190 |pages= 1494–500 |year= 1995 |pmid= 7985018 |doi=
*cite journal | author=Goodfellow PN, Lovell-Badge R |title=SRY and sex determination in mammals. |journal=Annu. Rev. Genet. |volume=27 |issue= |pages= 71–92 |year= 1994 |pmid= 8122913 |doi= 10.1146/annurev.ge.27.120193.000443
*cite journal | author=Hawkins JR |title=Mutational analysis of SRY in XY females. |journal=Hum. Mutat. |volume=2 |issue= 5 |pages= 347–50 |year= 1994 |pmid= 8257986 |doi= 10.1002/humu.1380020504
*cite journal | author=Harley VR |title=The molecular action of testis-determining factors SRY and SOX9. |journal=Novartis Found. Symp. |volume=244 |issue= |pages= 57–66; discussion 66–7, 79–85, 253–7 |year= 2002 |pmid= 11990798 |doi=
*cite journal | author=Jordan BK, Vilain E |title=Sry and the genetics of sex determination. |journal=Adv. Exp. Med. Biol. |volume=511 |issue= |pages= 1–13; discussion 13–4 |year= 2003 |pmid= 12575752 |doi=
*cite journal | author=Oh HJ, Lau YF |title=KRAB: a partner for SRY action on chromatin. |journal=Mol. Cell. Endocrinol. |volume=247 |issue= 1-2 |pages= 47–52 |year= 2006 |pmid= 16414182 |doi= 10.1016/j.mce.2005.12.011
*cite journal | author=Polanco JC, Koopman P |title=Sry and the hesitant beginnings of male development. |journal=Dev. Biol. |volume=302 |issue= 1 |pages= 13–24 |year= 2007 |pmid= 16996051 |doi= 10.1016/j.ydbio.2006.08.049
*cite journal | author=Hawkins JR, Taylor A, Berta P, "et al." |title=Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. |journal=Hum. Genet. |volume=88 |issue= 4 |pages= 471–4 |year= 1992 |pmid= 1339396| doi = 10.1007/BF00215684
*cite journal | author=Hawkins JR, Taylor A, Goodfellow PN, "et al." |title=Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. |journal=Am. J. Hum. Genet. |volume=51 |issue= 5 |pages= 979–84 |year= 1992 |pmid= 1415266 |doi=
*cite journal | author=Ferrari S, Harley VR, Pontiggia A, "et al." |title=SRY, like HMG1, recognizes sharp angles in DNA. |journal=EMBO J. |volume=11 |issue= 12 |pages= 4497–506 |year= 1992 |pmid= 1425584 |doi=
*cite journal | author=Jäger RJ, Harley VR, Pfeiffer RA, "et al." |title=A familial mutation in the testis-determining gene SRY shared by both sexes. |journal=Hum. Genet. |volume=90 |issue= 4 |pages= 350–5 |year= 1993 |pmid= 1483689 |doi=
*cite journal | author=Vilain E, McElreavey K, Jaubert F, "et al." |title=Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. |journal=Am. J. Hum. Genet. |volume=50 |issue= 5 |pages= 1008–11 |year= 1992 |pmid= 1570829 |doi=
*cite journal | author=Müller J, Schwartz M, Skakkebaek NE |title=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. |journal=J. Clin. Endocrinol. Metab. |volume=75 |issue= 1 |pages= 331–3 |year= 1992 |pmid= 1619028| doi = 10.1210/jc.75.1.331
*cite journal | author=McElreavey KD, Vilain E, Boucekkine C, "et al." |title=XY sex reversal associated with a nonsense mutation in SRY. |journal=Genomics |volume=13 |issue= 3 |pages= 838–40 |year= 1992 |pmid= 1639410| doi = 10.1016/0888-7543(92)90164-N
*cite journal | author=Sinclair AH, Berta P, Palmer MS, "et al." |title=A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. |journal=Nature |volume=346 |issue= 6281 |pages= 240–4 |year= 1990 |pmid= 1695712 |doi= 10.1038/346240a0
*cite journal | author=Berkovitz GD, Fechner PY, Zacur HW, "et al." |title=Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. |journal=Medicine (Baltimore) |volume=70 |issue= 6 |pages= 375–83 |year= 1991 |pmid= 1956279 |doi=
*cite journal | author=Berta P, Hawkins JR, Sinclair AH, "et al." |title=Genetic evidence equating SRY and the testis-determining factor. |journal=Nature |volume=348 |issue= 6300 |pages= 448–50 |year= 1991 |pmid= 2247149 |doi= 10.1038/348448A0
*cite journal | author=Jäger RJ, Anvret M, Hall K, Scherer G |title=A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. |journal=Nature |volume=348 |issue= 6300 |pages= 452–4 |year= 1991 |pmid= 2247151 |doi= 10.1038/348452a0
*cite journal | author=Ellis NA, Goodfellow PJ, Pym B, "et al." |title=The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. |journal=Nature |volume=337 |issue= 6202 |pages= 81–4 |year= 1989 |pmid= 2909893 |doi= 10.1038/337081a0
*cite journal | author=Whitfield LS, Hawkins TL, Goodfellow PN, Sulston J |title=41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome. |journal=Genomics |volume=27 |issue= 2 |pages= 306–11 |year= 1995 |pmid= 7557997| doi = 10.1006/geno.1995.1047

External links

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Look at other dictionaries:

  • SRY — ist die Abkürzung für: Sex determining region of Y (englisch), auf Deutsch in etwa: die das Geschlecht bestimmenden Region auf dem Y Chromosom den Internationalen Flughafencode von Sary im Iran umgangssprachliche Abkürzung für das Englische Wort… …   Deutsch Wikipedia

  • SRY — Símbolo del gen de la masculinidad situado en la región que determina el sexo en el cromosoma Y. Se piensa que actúa como un sistema de control principal, con capacidad para desactivar o activar otros genes implicados en el desarrollo …   Diccionario médico

  • SRY — abbreviation sorry: used in e mails and TEXT MESSAGES …   Usage of the words and phrases in modern English

  • śry — Definition: West Semitic, to strive, strive for, save, protect. Israel, from Hebrew yiśrāɔēl, God has striven, God has saved, from yiśrā, he has striven, saved, archaic preterite of śārâ, to strive, persevere …   The American Heritage dictionary of the English language

  • šry — Definition: To loosen, remove, begin. Tishri, from Hebrew tišrî, a month name, from Akkadian tašrītu, beginning, name of a month corresponding to parts of September and October, from šurrû, to begin, derived stem of *šarû, to begin …   The American Heritage dictionary of the English language

  • SRY — abbreviation sorry: used in emails and text messages Thesaurus: abbreviations used in emails and text messageshyponym ways of saying you are sorry or regret somethingsynonym communicating by email or text messagehyponym …   Useful english dictionary

  • SRY — Image of the protein SRY bound to DNA. Este artículo o …   Wikipedia Español

  • SRY — Ген SRY (англ. Sex determining Region Y) располагается на Y хромосоме большинства млекопитающих, и принимает участие в развитии организма по мужскому типу. Ген SRY не имеет интронов и кодирует белковый фактор развития семенников, также… …   Википедия

  • SRY — Le gène SRY (Sex determining Region of Y chromosome) est un gène architecte situé sur le bras P (court) du chromosome Y en position Yp11.31. La transcription et la traduction du gène SRY aboutissent à la synthèse de la protéine TDF (Testis… …   Wikipédia en Français

  • SRY — Sex region Y, a region on the Y chromosome that determines the sex of the individual. SRY is necessary and sufficient for male sex determination. It is the testis determining factor. Mutations in SRY give rise to XY females with gonadal… …   Medical dictionary


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