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Mol. Hum. Reprod. Advance Access published online on February 15, 2006
Molecular Human Reproduction, doi:10.1093/molehr/gal017
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received December 15, 2005
Accepted January 13, 2006

Article

An investigation into FOXE1 polyalanine tract length in premature ovarian failure

Wendy J. Watkins 1, Sarah E. Harris 2, Megan J. Craven 1, Andrea L. Vincent 3, Ingrid M. Winship 4, Ksenija Gersak 5, and Andrew N. Shelling 1 *

1 Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand
2 Department of Psychology, University of Edinburgh, Edinburgh, UK
3 Department of Ophthalmology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand
4 Genetic Health Services, Royal Children’s Hospital, Parkville, Victoria, Australia
5 Department of Obstetrics and Gynaecology, University Medical Centre, Ljubljana, Slovenia

* To whom correspondence should be addressed.
Andrew N. Shelling, E-mail: a.shelling{at}auckland.ac.nz


  Abstract

Premature ovarian failure (POF) is a common condition affecting 1% of women worldwide. There is strong evidence for genetic involvement in POF as many cases are familial, and mutations in several genes have been associated with POF. We investigated variation in FOXE1 polyalanine tract length, following the observation that polyalanine tract deletions are seen in the closely related FOXL2 in patients with POF. In addition, polyalanine tract expansions in FOXL2 are often seen in patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), a rare eyelid disorder often associated with POF. The FOXE1 polyalanine tract shows marked variation in its length between POF patients and normal controls, existing as an allele of 12, 14, 16, 17 or 19 alanine residues. We found evidence to suggest that variation in FOXE1 polyalanine tract length predisposes to POF.

Keywords: blepharophimosis-ptosis-epicanthus inversus syndrome/forkhead/FOXE1/polyalanine tract/premature ovarian failure.
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