Genomic basis of aromatase excess syndrome: Recombination- and replication-Mediated rearrangements leading to CYP19A1 overexpression Academic Article uri icon

Overview

MeSH Major

  • 46, XX Disorders of Sex Development
  • Aromatase
  • Gene Rearrangement
  • Gynecomastia
  • Infertility, Male
  • Metabolism, Inborn Errors

abstract

  • These results indicate that AEXS is caused by duplications involving CYP19A1 and simple and complex rearrangements that presumably lead to the usage of cryptic promoters of several neighboring genes. Our data support the notion that phenotypes depend on the dosage of CYP19A1 and the characteristics of the fused promoters. Furthermore, we show that the rearrangements in AEXS are generated by both recombination- and replication-mediated mechanisms, independent of the known rearrangement-inducing DNA features or late-replication timing. Thus, AEXS represents a unique model for human genomic disorders.

publication date

  • December 2013

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC5399493

Digital Object Identifier (DOI)

  • 10.1210/jc.2013-2520

PubMed ID

  • 24064691

Additional Document Info

start page

  • E2013

end page

  • 21

volume

  • 98

number

  • 12