Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal | Zendy

Bryan P. Haines | Zendy; James Hughes | Zendy; Mark Corbett | Zendy; Marie Shaw | Zendy; Josie Innes | Zendy; Leena Patel | Zendy; Jozef Gécz | Zendy; Jill ClaytonSmith | Zendy; Paul Q. Thomas | Zendy

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Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal

Author(s) -

Bryan P. Haines,

James Hughes,

Mark Corbett,

Marie Shaw,

Josie Innes,

Leena Patel,

Jozef Gécz,

Jill ClaytonSmith,

Paul Q. Thomas

Publication year - 2015

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-4383

Subject(s) - testis determining factor , sex reversal , biology , chromosomal translocation , y chromosome , gonadal ridge , genetics , disorders of sex development , x chromosome , x inactivation , xist , pseudoautosomal region , gene , embryogenesis

46,XX male sex reversal occurs in approximately 1: 20 000 live births and is most commonly caused by interchromosomal translocations of the Y-linked sex-determining gene, SRY. Rearrangements of the closely related SOX3 gene on the X chromosome are also associated with 46,XX male sex reversal. It has been hypothesized that sex reversal in the latter is caused by ectopic expression of SOX3 in the developing urogenital ridge where it triggers male development by acting as an analog of SRY. However, altered regulation of SOX3 in individuals with XX male sex reversal has not been demonstrated.

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