Familial Mutation in the Testis-Determining Gene SRY Shared by an XY Female and Her Normal Father

We investigated the origin of XX sex reversal in the insectivorous mole Talpa occidentalis. Cytogenetic, histological and hormonal studies indicate that all XX individuals analyzed from two different populations are true hermaphrodites, with ovotestes. This suggests that XX sex reversal may be the norm in this species. The intersexes are functional fertile females and the trait is transmitted and maintained in the population. Intersexes lack the Y chromosome gene SRY (sex determining region Y gene), shown to be the testis determining gene. These results suggest that XX intersex moles may have arisen from a mutation of a gene located downstream from SRY/TDY in the testis determining pathway.

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46, XY female with cloacal exstrophy and masculinization at puberty

Journal of Pediatric Urology ◽

10.1016/j.jpurol.2009.03.013 ◽

2009 ◽

Vol 5 (5) ◽

pp. 408-411 ◽

Cited By ~ 2

Author(s):

H. Mirheydar ◽

K. Evason ◽

F. Coakley ◽

L.S. Baskin ◽

M. DiSandro

Keyword(s):

Cloacal Exstrophy ◽

Xy Female

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46, XY Female with Congenital Lipoid Adrenal Hyperplasia: Atypical Presentation and Novel StAR Protein Gene Mutation.

10.1210/endo-meetings.2010.part1.p13.p1-637 ◽

2010 ◽

pp. P1-637-P1-637

Author(s):

O Lekarev ◽

Y Morel ◽

MI New

Keyword(s):

Gene Mutation ◽

Protein Gene ◽

Atypical Presentation ◽

Adrenal Hyperplasia ◽

Star Protein ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Xy Female

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A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293

10.22541/au.162333505.56991546/v1 ◽

2021 ◽

Author(s):

Shengfang Qin ◽

Xueyan Wang ◽

Yunxing Li

Keyword(s):

Point Mutation ◽

Gene Mutation ◽

Molecular Diagnosis ◽

Novel Mutation ◽

Pathogenic Variant ◽

Sry Gene ◽

Pathogenic Role ◽

Common Cause ◽

Xy Female

SRY gene mutation is a common cause of 46,XY female. We report a 46,XY female with a novel mutation of SRY c.293G>A (p.Trp98ter). Our report provides evidence for a pathogenic role of the SRY gene c.293G>A mutation in an individual and enlarges the spectrum of molecular diagnosis for these patients.

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The detection of female cell activity in male sex chromosome chimeric Rideau Arcott sheep, using the Xist gene product as a marker

SURG Journal ◽

10.21083/surg.v1i2.414 ◽

2008 ◽

Vol 1 (2) ◽

pp. 20-25

Author(s):

Okimi Peters ◽

W. Allan King

Keyword(s):

Y Chromosome ◽

Sex Chromosome ◽

Cell Activity ◽

Xist Gene ◽

Specific Gene ◽

Xist Expression ◽

Female Cell ◽

Male Sex ◽

Polymerase Chain ◽

Xy Female

The detection of the SRY (Sex-determining region on the Y chromosome) gene is a popular method used for the identification of freemartins (XX/XY female chimeras). This method relies on the fact that the SRY gene is a Y chromosome specific gene and is thus normally only present in males therefore detecting its presence in a female indicates the presence of male cells (XY cells) within the female. This concept can be extrapolated to the male counterparts of freemartins with regards to the Xist gene. This gene is normally only widely expressed in females and can be used as a marker for identifying females. Therefore, detecting Xist gene expression in males (in tissues other than the testes, as the Xist gene is expressed exclusively in the testes of males) may indicate that these males contain transcriptionally competent female cells and thus necessarily labels them as sex-chromosome chimeras. In the present study four previously identified male sex chromosome chimeras were screened for the expression of the Xist gene using reverse transcription Polymerase Chain Reaction (PCR), and it was detected in three of the four chimeras. Xist expression was not detected in one of the chimeras because the proportion of female cells in its blood is significantly low and thus it is likely that the blood sample used in the study did not possess female cells. None-the-less it was concluded that the detection of Xist expression in male sex chromosome chimeras can be used as an indication of the presence and transcriptional competence of female cells within them.

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