NDLI: Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

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Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

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Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Shaw, Marie Haines, Bryan Corbett, Mark Innes, Josie Thomas, Paul Patel, Leena Gecz, Jozef Clayton-Smith, Jill Hughes, James
Description	Author Affiliation: Haines B ( School of Molecular & Biomedical Science (B.H., J.H., P.T.), Robinson Research Institute (B.H., J.H., M.C., M.S., J.G., P.T.), School of Pediatrics and Reproductive Health (M.C., M.S., J.G.), The University of Adelaide, Adelaide, Australia 5005)
Abstract	CONTEXT: 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. PATIENTS AND METHODS: Here we report a boy with SRY-negative XX male sex reversal who was diagnosed at birth with a small phallus, mixed gonads, and borderline-normal T. Molecular characterization of the affected individual was performed using array comparative genomic hybridization, fluorescent in situ hybridization of metaphase chromosomes, whole-genome sequencing, and RT-PCR expression analysis of lymphoblast cell lines. RESULTS: The affected male carries â ¼774-kb insertion translocation from chromosome 1 into a human-specific palindromic sequence 82 kb distal to SOX3. Importantly, robust SOX3 expression was identified in cells derived from the affected individual but not from control XX or XY cells, indicating that the translocation has a direct effect on SOX3 regulation. CONCLUSION: This is the first demonstration of altered SOX3 expression in an individual with XX male sex reversal and suggests that SOX3 can substitute for SRY to initiate male development in humans.
ISSN	0021972X
e-ISSN	19457197
Journal	The Journal of Clinical Endocrinology & Metabolism
Issue Number	5
Volume Number	100
Language	English
Publisher	Oxford University Press
Publisher Date	2015-05-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	46, Xx Testicular Disorders Of Sex Development Genetics Soxb1 Transcription Factors Sex Chromosome Aberrations Translocation, Genetic Child, Preschool Infant Research Support, Non-u.s. Gov't Discipline Endocrinology Discipline Metabolism
Content Type	Text
Resource Type	Article Case study
Subject	Biochemistry (medical) Endocrinology, Diabetes and Metabolism Clinical Biochemistry Biochemistry Endocrinology

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