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。
• 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
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 (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.
一月 01, 2023
sry基因, 此條目可参照英語維基百科相應條目来扩充, 2019年4月16日, 若您熟悉来源语言和主题, 请协助参考外语维基百科扩充条目, 请勿直接提交机械翻译, 也不要翻译不可靠, 低品质内容, 依版权协议, 译文需在编辑摘要注明来源, 或于讨论页顶部标记, href, template, translated, page, html, title, template, translated, page, translated, page, 标签, 此條目需要精通或熟悉相关主题的编者参与及协助编辑, 2019年4. 此條目可参照英語維基百科相應條目来扩充 2019年4月16日 若您熟悉来源语言和主题 请协助参考外语维基百科扩充条目 请勿直接提交机械翻译 也不要翻译不可靠 低品质内容 依版权协议 译文需在编辑摘要注明来源 或于讨论页顶部标记 a href Template Translated page html title Template Translated page Translated page a 标签 此條目需要精通或熟悉相关主题的编者参与及协助编辑 2019年4月16日 請邀請適合的人士改善本条目 更多的細節與詳情請參见討論頁 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 SRY基因已知的結構PDB直系同源搜索 PDBe RCSBPDBID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IDOMIM 480000 MGI 98660 HomoloGene 48168 GeneCards SRY基因位置 人类 染色体Y染色體 1 基因座Yp11 2起始2 786 855 bp 1 终止2 787 682 bp 1 基因位置 小鼠 染色体小鼠Y染色体 2 基因座Y Ypter起始2 662 471 bp 2 终止2 663 658 bp 2 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 differentiationSources Amigo QuickGO直系同源物種人類小鼠Entrez673621674EnsemblENSG00000184895ENSMUSG00000069036UniProtQ05066Q05738mRNA 序列NM 003140NM 011564蛋白序列NP 003131NP 035694基因位置 UCSC Chr Y 2 79 2 79 MbChr Y 2 66 2 66 MbPubMed 查找 3 4 維基數據檢視 編輯人類檢視 編輯小鼠该基因由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断 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 目录 1 功能 2 相關條目 3 註釋 4 延伸阅读功能 编辑簡單來說 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 相關條目 编辑Eif2s3y基因 CBX2基因 英语 CBX2 gene 註釋 编辑 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 编辑Haqq CM King CY Ukiyama E Falsafi S Haqq TN Donahoe PK Weiss MA Molecular basis of mammalian sexual determination activation of Mullerian 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 Jager 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 Muller 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 Jager 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 取自 https zh wikipedia org w index php title SRY基因 amp oldid 73840591, 维基百科，wiki，书籍，书籍，图书馆，
