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

Research output: Contribution to journalArticle

5 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 languageEnglish
Pages (from-to)125-129
Number of pages5
JournalSexual Development
Volume9
Issue number3
DOIs
Publication statusPublished - 2015 Aug 20
Externally publishedYes

Fingerprint

X Chromosome Inactivation
Sexual Development
Licensure
Disorders of Sex Development
Nuclear Family
Mothers
Phenotype
DNA

Keywords

  • Disorders of sex development
  • Duplication
  • Gonad
  • SOX3

ASJC Scopus subject areas

  • Developmental Biology
  • Embryology
  • Endocrinology, Diabetes and Metabolism

Cite this

Igarashi, M., Mikami, H., Katsumi, M., Miyado, M., Izumi, Y., Ogata, T., & Fukami, M. (2015). SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation. Sexual Development, 9(3), 125-129. https://doi.org/10.1159/000377653

SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation. / Igarashi, Maki; Mikami, Hitoshi; Katsumi, Momori; Miyado, Mami; Izumi, Yoko; Ogata, Tsutomu; Fukami, Maki.

In: Sexual Development, Vol. 9, No. 3, 20.08.2015, p. 125-129.

Research output: Contribution to journalArticle

Igarashi, M, Mikami, H, Katsumi, M, Miyado, M, Izumi, Y, Ogata, T & Fukami, M 2015, 'SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation', Sexual Development, vol. 9, no. 3, pp. 125-129. https://doi.org/10.1159/000377653
Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T et al. SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation. Sexual Development. 2015 Aug 20;9(3):125-129. https://doi.org/10.1159/000377653
Igarashi, Maki ; Mikami, Hitoshi ; Katsumi, Momori ; Miyado, Mami ; Izumi, Yoko ; Ogata, Tsutomu ; Fukami, Maki. / SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation. In: Sexual Development. 2015 ; Vol. 9, No. 3. pp. 125-129.
@article{bedb3b569ebd40bbbc7db3a25451ec88,
title = "SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation",
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.",
keywords = "Disorders of sex development, Duplication, Gonad, SOX3",
author = "Maki Igarashi and Hitoshi Mikami and Momori Katsumi and Mami Miyado and Yoko Izumi and Tsutomu Ogata and Maki Fukami",
year = "2015",
month = "8",
day = "20",
doi = "10.1159/000377653",
language = "English",
volume = "9",
pages = "125--129",
journal = "Sexual Development",
issn = "1661-5425",
publisher = "S. Karger AG",
number = "3",

}

TY - JOUR

T1 - SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation

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.

KW - Disorders of sex development

KW - Duplication

KW - Gonad

KW - SOX3

UR - http://www.scopus.com/inward/record.url?scp=84939570400&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84939570400&partnerID=8YFLogxK

U2 - 10.1159/000377653

DO - 10.1159/000377653

M3 - Article

C2 - 25791725

AN - SCOPUS:84939570400

VL - 9

SP - 125

EP - 129

JO - Sexual Development

JF - Sexual Development

SN - 1661-5425

IS - 3

ER -