SRY基因

SRY基因
已知的結構
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	1HRY、1HRZ、1J46、1J47、2GZK
識別號
别名	SRY；, SRXX1, SRXY1, TDF, TDY, Testis determining factor, sex determining region Y, Sex-determining region of Y-chromosome, Sex-determining region Y
外部ID	OMIM：480000 MGI：98660 HomoloGene：48168 GeneCards：SRY
基因位置（人类）
染色体	Y染色體
终止	2,787,682 bp
基因位置（小鼠）
染色体	小鼠Y染色体
终止	2,663,658 bp
RNA表达模式
	查阅更多表达数据
基因本體
分子功能	• DNA结合转录因子活性; • 转录因子结合; • calmodulin binding; • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; • DNA结合; • DNA-binding transcription factor activity, RNA polymerase II-specific; • 血浆蛋白结合; • DNA-binding transcription activator activity, RNA polymerase II-specific;
細胞組分	• 細胞質; • nuclear speck; • 核质; • 细胞核;
生物學過程	• 细胞分化; • regulation of transcription, DNA-templated; • sex differentiation; • transcription, DNA-templated; • positive regulation of transcription, DNA-templated; • positive regulation of male gonad development; • male sex determination; • regulation of transcription by RNA polymerase II; • negative regulation of transcription by RNA polymerase II; • positive regulation of transcription by RNA polymerase II; • central nervous system development; • positive regulation of gene expression; • neuron differentiation;
	Sources:Amigo / QuickGO
直系同源
	6736
	21674
	ENSG00000184895
	ENSMUSG00000069036
	Q05066
	Q05738
	NM_003140
	NM_011564
	NP_003131
	NP_035694
	維基數據
檢視/編輯人類	檢視/編輯小鼠

SRY基因（sex-determining region of Y-chromosome，全称：Y染色体性别决定区），又名睪丸決定因子，（英語：Testis-determining factor，簡稱TDF）是人体Y染色体上的一段基因片段，该基因是决定男性睾丸发育的主要基因。存在于Y染色体的短臂末端上。

该基因由Sinclair在1990年发现。

有些人宣稱，SRY基因就是唯一一个性别决定基因，因此可以通过寻找该基因片段，达到判断测试者的性别的目的，若样本中存在该基因表示受试者是男性，否則为女性。然而一篇有一千六百餘名科學家簽名的聲明（包括700 名生物學者、100名遺傳學者、9名諾貝爾獎得主）指出：目前不存在任何方式可以準確地判斷生理性別，且即使有辦法判斷，也不應該因此限制人們追求不同的自我認同。^[5]

功能

簡單來說，在懷孕期間，分佈於生殖嵴上的原基性腺的雙功能細胞同時具備分化成男性腺細胞或者女性腺細胞的能力。而睪丸決定因子就會啟動男性專用的轉錄因子，令這些細胞開始分裂，並分化成為睪丸。 TDF會上調表達SOX9這個具有同TDF相近的DNA結合位的轉錄因子。SOX9會上調成纖維細胞生長因子9，而成纖維細胞生長因子9反過來上調SOX9。这样，SOX9最終上升到合適的濃度，於是性腺上的雙功能細胞就會開始分化成塞爾托利氏細胞。另外，有表達TDF的細胞持續生長去形成原基睪丸。

註釋

^ ^1.0 ^1.1 ^1.2 GRCh38: Ensembl release 89: ENSG00000184895 - Ensembl, May 2017
^ ^2.0 ^2.1 ^2.2 GRCm38: Ensembl release 89: ENSMUSG00000069036 - Ensembl, May 2017
^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Over 1,600 scientists condemn Trump transgender proposal. BBC. 2018-11-02 [2019-01-19]. （原始内容存档于2019-01-20）（英语）.

延伸阅读

Haqq CM, King CY, Ukiyama E, Falsafi S, Haqq TN, Donahoe PK, Weiss MA. Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. Science. December 1994, 266 (5190): 1494–500. Bibcode:1994Sci...266.1494H. PMID 7985018. doi:10.1126/science.7985018.
Goodfellow PN, Lovell-Badge R. SRY and sex determination in mammals. Annual Review of Genetics. 1993, 27: 71–92. PMID 8122913. doi:10.1146/annurev.ge.27.120193.000443.
Hawkins JR. Mutational analysis of SRY in XY females. Human Mutation. 1993, 2 (5): 347–50. PMID 8257986. doi:10.1002/humu.1380020504.
Harley VR. The molecular action of testis-determining factors SRY and SOX9. Novartis Foundation Symposia 244. 2002: 57–66; discussion 66–7, 79–85, 253–7. ISBN 978-0-470-86873-7. PMID 11990798. doi:10.1002/0470868732.ch6. |journal=被忽略 (帮助)
Jordan BK, Vilain E. Sry and the genetics of sex determination. Advances in Experimental Medicine and Biology 511. 2003: 1–13; discussion 13–4. ISBN 978-1-4613-5162-7. PMID 12575752. doi:10.1007/978-1-4615-0621-8_1. |journal=被忽略 (帮助)
Oh HJ, Lau YF. KRAB: a partner for SRY action on chromatin. Molecular and Cellular Endocrinology. March 2006, 247 (1–2): 47–52. PMID 16414182. doi:10.1016/j.mce.2005.12.011.
Polanco JC, Koopman P. Sry and the hesitant beginnings of male development. Developmental Biology. February 2007, 302 (1): 13–24. PMID 16996051. doi:10.1016/j.ydbio.2006.08.049.
Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Human Genetics. February 1992, 88 (4): 471–4. PMID 1339396. doi:10.1007/BF00215684.
Hawkins JR, Taylor A, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. American Journal of Human Genetics. November 1992, 51 (5): 979–84. PMC 1682856  . PMID 1415266.
Ferrari S, Harley VR, Pontiggia A, Goodfellow PN, Lovell-Badge R, Bianchi ME. SRY, like HMG1, recognizes sharp angles in DNA. The EMBO Journal. December 1992, 11 (12): 4497–506. PMC 557025  . PMID 1425584. doi:10.1002/j.1460-2075.1992.tb05551.x.
Jäger RJ, Harley VR, Pfeiffer RA, Goodfellow PN, Scherer G. A familial mutation in the testis-determining gene SRY shared by both sexes. Human Genetics. December 1992, 90 (4): 350–5. PMID 1483689. doi:10.1007/BF00220457.
Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. American Journal of Human Genetics. May 1992, 50 (5): 1008–11. PMC 1682588  . PMID 1570829.
Müller J, Schwartz M, Skakkebaek NE. 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. The Journal of Clinical Endocrinology and Metabolism. July 1992, 75 (1): 331–3. PMID 1619028. doi:10.1210/jc.75.1.331.
McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M. XY sex reversal associated with a nonsense mutation in SRY. Genomics. July 1992, 13 (3): 838–40. PMID 1639410. doi:10.1016/0888-7543(92)90164-N.
Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. July 1990, 346 (6281): 240–4 [2020-01-18]. Bibcode:1990Natur.346..240S. PMID 1695712. doi:10.1038/346240a0. （原始内容存档 (PDF)于2021-03-22）.
Berkovitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM, Migeon CJ, Perlman EJ. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine. November 1991, 70 (6): 375–83. PMID 1956279. doi:10.1097/00005792-199111000-00003.
Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature. November 1990, 348 (6300): 448–50. Bibcode:1990Natur.348..448B. PMID 2247149. doi:10.1038/348448A0.
Jäger RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature. November 1990, 348 (6300): 452–4. Bibcode:1990Natur.348..452J. PMID 2247151. doi:10.1038/348452a0.
Ellis NA, Goodfellow PJ, Pym B, Smith M, Palmer M, Frischauf AM, Goodfellow PN. The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature. January 1989, 337 (6202): 81–4. Bibcode:1989Natur.337...81E. PMID 2909893. doi:10.1038/337081a0.
Whitfield LS, Hawkins TL, Goodfellow PN, Sulston J. 41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome. Genomics. May 1995, 27 (2): 306–11. PMID 7557997. doi:10.1006/geno.1995.1047.

[refGRCh38Ensembl-1] 1.0 ^1.1 ^1.2 GRCh38: Ensembl release 89: ENSG00000184895 - Ensembl, May 2017

[refGRCm38Ensembl-2] 2.0 ^2.1 ^2.2 GRCm38: Ensembl release 89: ENSMUSG00000069036 - Ensembl, May 2017

[3] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Over 1,600 scientists condemn Trump transgender proposal. BBC. 2018-11-02 [2019-01-19]. （原始内容存档于2019-01-20）（英语）.

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SRY基因

目录

功能

相關條目

註釋

延伸阅读