Literature DB >> 21795084

The evolution of the search for novel genes in mammalian sex determination: from mice to men.

Valerie A Arboleda1, Eric Vilain.   

Abstract

Disorders of sex determination are a genetically heterogeneous group of rare disorders, presenting with sex-specific phenotypes and variable expressivity. Prior to the advent of the Human Genome Project, the identification of novel mammalian sex determination genes was hindered by the rarity of disorders of sex determination and small family sizes that made traditional linkage approaches difficult, if not impossible. This article reviews the revolutionary role of the Human Genome Project in the history of sex determination research and highlights the important role of inbred mouse models in elucidating the role of identified sex determination genes in mammalian sex determination. Next generation sequencing technologies has made it possible to sequence complete human genomes or exomes for the purpose of providing a genetic diagnosis to more patients with unexplained disorders of sex determination and identifying novel sex determination genes. However, beyond novel gene discovery, these tools have the power to inform us on more intricate and complex regulation-taking place within the heterogeneous cells that make up the testis and ovary.
Copyright © 2011 Elsevier Inc. All rights reserved.

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Year:  2011        PMID： 21795084      PMCID： PMC3171521          DOI： 10.1016/j.ymgme.2011.06.024

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  32 in total

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  2 in total

1.  Genome-wide identification of regulatory elements in Sertoli cells.

Authors:  Danielle M Maatouk; Anirudh Natarajan; Yoichiro Shibata; Lingyun Song; Gregory E Crawford; Uwe Ohler; Blanche Capel
Journal:  Development       Date:  2017-01-13       Impact factor: 6.868

Review 2.  Translational genetics for diagnosis of human disorders of sex development.

Authors:  Ruth M Baxter; Eric Vilain
Journal:  Annu Rev Genomics Hum Genet       Date:  2013-07-15       Impact factor: 8.929
  2 in total

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