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

The Journal of Clinical Endocrinology and Metabolism
Bryan HainesPaul Thomas

Abstract

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. 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. The affected male carries ∼774-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...Continue Reading

Citations

Nov 4, 2015·Seminars in Cell & Developmental Biology·Anu Bashamboo, Ken McElreavey
Aug 5, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dorien BaetensMartine Cools
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Dec 11, 2019·International Journal of Molecular Sciences·Romina P Grinspon, Rodolfo A Rey
Sep 26, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Eva D'haene, Sarah Vergult

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