sex determining region Y
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The SRY gene provides instructions for making a protein called the sex-determining region Y protein. This protein is involved in male-typical sex development, which usually follows a certain pattern based on an individual's chromosomes. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype).
Normal function
The SRY gene provides instructions for making a protein called the sex-determining region Y protein. This protein is involved in male-typical sex development, which usually follows a certain pattern based on an individual's chromosomes. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype).
The SRY gene is found on the Y chromosome. The sex-determining region Y protein produced from this gene acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein starts processes that cause a fetus to develop male gonads (testes) and prevent the development of female reproductive structures (uterus and fallopian tubes).
Conditions referring to this gene or chromosome
Altri nomi
essential protein for sex determination in human males
sex determining region protein
sex-determining region on Y
SRY_HUMAN
TDF
TDY
testis-determining factor
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Ulteriori letture e riferimenti
- sex determining region Y; MedlinePlus, National Library of Medicine.
- Assumpcao JG, Benedetti CE, Maciel-Guerra AT, Guerra G Jr, Baptista MT, Scolfaro MR, de Mello MP. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes. J Mol Med (Berl). 2002 Dec;80(12):782-90. doi: 10.1007/s00109-002-0376-9. Epub 2002 Oct 1.
- Delot EC, Vilain EJ. Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development. 2003 Oct 30 [updated 2022 May 26]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1416/
- Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. Eur J Hum Genet. 2007 Jan;15(1):76-80. doi: 10.1038/sj.ejhg.5201719. Epub 2006 Oct 25.
- Kellermayer R, Halvax L, Czako M, Shahid M, Dhillon VS, Husain SA, Sule N, Gomori E, Mammel M, Kosztolanyi G. A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. Diagn Mol Pathol. 2005 Sep;14(3):159-63. doi: 10.1097/01.pas.0000176770.56541.dd.
- King TF, Conway GS. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113.
- Phillips NB, Jancso-Radek A, Ittah V, Singh R, Chan G, Haas E, Weiss MA. SRY and human sex determination: the basic tail of the HMG box functions as a kinetic clamp to augment DNA bending. J Mol Biol. 2006 Apr 21;358(1):172-92. doi: 10.1016/j.jmb.2006.01.060. Epub 2006 Feb 6.
- Queralt R, Madrigal I, Vallecillos MA, Morales C, Ballesca JL, Oliva R, Soler A, Sanchez A, Margarit E. Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion. Am J Med Genet A. 2008 May 15;146A(10):1335-40. doi: 10.1002/ajmg.a.32284.
- Racca JD, Chen YS, Maloy JD, Wickramasinghe N, Phillips NB, Weiss MA. Structure-function relationships in human testis-determining factor SRY: an aromatic buttress underlies the specific DNA-bending surface of a high mobility group (HMG) box. J Biol Chem. 2014 Nov 21;289(47):32410-29. doi: 10.1074/jbc.M114.597526. Epub 2014 Sep 24.
- Rizvi AA. 46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management. Am J Med Sci. 2008 Apr;335(4):307-9. doi: 10.1097/MAJ.0b013e31811ec1b4.
- Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA. Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation. Mol Hum Reprod. 2004 Jul;10(7):521-6. doi: 10.1093/molehr/gah071. Epub 2004 May 21.
- Sreenivasan R, Gonen N, Sinclair A. SOX Genes and Their Role in Disorders of Sex Development. Sex Dev. 2022;16(2-3):80-91. doi: 10.1159/000524453. Epub 2022 Jun 27.
- Waters PD, Wallis MC, Marshall Graves JA. Mammalian sex--Origin and evolution of the Y chromosome and SRY. Semin Cell Dev Biol. 2007 Jun;18(3):389-400. doi: 10.1016/j.semcdb.2007.02.007. Epub 2007 Feb 24.
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