SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation

Maki Igarashi; Hitoshi Mikami; Momori Katsumi; Mami Miyado; Yoko Izumi; Tsutomu Ogata; Maki Fukami

doi:10.1159/000377653

SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation

Maki Igarashi, Hitoshi Mikami, Momori Katsumi, Mami Miyado, Yoko Izumi, Tsutomu Ogata, Maki Fukami

Department of Obstetrics and Gynecology

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)

Abstract

Submicroscopic duplications involving SOX3 and/or its flanking regions have been identified in 46,XX individuals both with and without disorders of sex development, raising the question whether SOX3 overdosage is sufficient to induce testicular development in genetically female individuals. Here, we report a mother-daughter pair with female phenotypes and random X inactivation. The individuals carry complex X chromosomal rearrangements leading to a copy number gain of genomic regions involving SOX3 and its upstream region. The amplified DNA fragments were detected at Xq27. These results provide evidence that SOX3 overdosage permits normal sex development in 46,XX individuals with random X inactivation.

Original language	English
Pages (from-to)	125-129
Number of pages	5
Journal	Sexual Development
Volume	9
Issue number	3
DOIs	https://doi.org/10.1159/000377653
Publication status	Published - 2015 Aug 20

Keywords

Disorders of sex development
Duplication
Gonad
SOX3

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Embryology
Developmental Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1159/000377653

Cite this

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abstract = "Submicroscopic duplications involving SOX3 and/or its flanking regions have been identified in 46,XX individuals both with and without disorders of sex development, raising the question whether SOX3 overdosage is sufficient to induce testicular development in genetically female individuals. Here, we report a mother-daughter pair with female phenotypes and random X inactivation. The individuals carry complex X chromosomal rearrangements leading to a copy number gain of genomic regions involving SOX3 and its upstream region. The amplified DNA fragments were detected at Xq27. These results provide evidence that SOX3 overdosage permits normal sex development in 46,XX individuals with random X inactivation.",

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AU - Igarashi, Maki

AU - Mikami, Hitoshi

AU - Katsumi, Momori

AU - Miyado, Mami

AU - Izumi, Yoko

AU - Ogata, Tsutomu

AU - Fukami, Maki

PY - 2015/8/20

Y1 - 2015/8/20

N2 - Submicroscopic duplications involving SOX3 and/or its flanking regions have been identified in 46,XX individuals both with and without disorders of sex development, raising the question whether SOX3 overdosage is sufficient to induce testicular development in genetically female individuals. Here, we report a mother-daughter pair with female phenotypes and random X inactivation. The individuals carry complex X chromosomal rearrangements leading to a copy number gain of genomic regions involving SOX3 and its upstream region. The amplified DNA fragments were detected at Xq27. These results provide evidence that SOX3 overdosage permits normal sex development in 46,XX individuals with random X inactivation.

AB - Submicroscopic duplications involving SOX3 and/or its flanking regions have been identified in 46,XX individuals both with and without disorders of sex development, raising the question whether SOX3 overdosage is sufficient to induce testicular development in genetically female individuals. Here, we report a mother-daughter pair with female phenotypes and random X inactivation. The individuals carry complex X chromosomal rearrangements leading to a copy number gain of genomic regions involving SOX3 and its upstream region. The amplified DNA fragments were detected at Xq27. These results provide evidence that SOX3 overdosage permits normal sex development in 46,XX individuals with random X inactivation.

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SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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