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人类性别决定相关基因的研究进展 被引量:9

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摘要 人类性别决定是由SRY启动的多基因参与的复杂过程。近年来的研究表明,SRY、SOX9、WT1、SF1、AMH、DAX1及WNT4等基因都在人类性别分化与发育过程中起作用。人类性别决定相关基因的研究对性分化与发育异常等临床疾病的诊断和治疗具有十分重要的意义。
出处 《国外医学(遗传学分册)》 2005年第5期262-265,共4页 Foreign Medical Sciences(Section of Genetics )
基金 辽宁省教育厅资助项目(No.20121280)
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  • 1Sinclair AH, Berta P, Palmer MS, et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature, 1990,346(6281):240-244.
  • 2Koopman P, Gubbay J, Vivian N, et al. Male development of chromosomally female mice transgenic for Sry. Nature, 1991,351(6322):117-121.
  • 3Harley VR, Lovell-Badge R, Goodfellow PN. Definition of a consensus DNA binding site for SRY. Nucleic Acids Res, 1994,22(8):1500-1501.
  • 4Harley VR, Layfield S, Mitchell CL, et al. Defective importin β recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations. Proc Natl Acad Sci USA, 2003,100(12):7045-7050.
  • 5Hanley NA, Hagan DM, Clement-Jones M, et al. SRY,SOX9,and DAX1 expression patterns during human sex determination and gonadal development. Mech Dev, 2000,91:403-407.
  • 6Hawkins JR, Taylor A, Berta P, et al. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet, 1992,88(4):471-474.
  • 7Jordan BK, Jain M, Natarajan S, et al. Familial mutation in the testis-determing gene SRY shared by an XY female and her normal father. J Clin Endocrinol Metab, 2002,87(7):3428-3432.
  • 8Foster JW,Dominguez-Steglich MA, Guioli S, et al. Campomelic dysplasia and autosomal sex reversal caused by mutaions in an SRY-related gene. Nature, 1994,372(6506):525-530.
  • 9Bell DM, Leung KK, Wheatley SC, et al. SOX9 directly regulates the type-Ⅱ collagen gene. Nat Genet, 1997,16(2):174-178.
  • 10Sudbeck P, Schmitz ML, Baeuerle PA, et al. Sex reversal by loss of the C-terminal transactivation domain of human SOX9. Nat Genet, 1996,13(2):230-232.

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