An investigation into FOXE1 polyalanine tract length in premature ovarian failure.
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.
Watkins
Wendy J
WJ
Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, New Zealand.
Harris
Sarah E
SE
Craven
Megan J
MJ
Vincent
Andrea L
AL
Winship
Ingrid M
IM
Gersak
Ksenija
K
Shelling
Andrew N
AN
D000328:Adult; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009520:New Zealand; D010455:Peptides / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D017524:Slovenia; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
C106894:FOXE1 protein, human; D051858:Forkhead Transcription Factors; D010455:Peptides; C019529:polyalanine