Publication

An investigation into FOXE1 polyalanine tract length in premature ovarian failure

Watkins, WJ., Harris, SE., Craven, MJ., Vincent, AL., Winship, IM., Gersak, K. & Shelling, AN., Mar-2006, In : Molecular human reproduction. 12, 3, p. 145-149 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • WJ Watkins
  • SE Harris
  • MJ Craven
  • AL Vincent
  • IM Winship
  • K Gersak
  • AN Shelling

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.

Original languageEnglish
Pages (from-to)145-149
Number of pages5
JournalMolecular human reproduction
Volume12
Issue number3
Publication statusPublished - Mar-2006

    Keywords

  • blepharophimosis-ptosis-epicanthus inversus syndrome, forkhead, FOXE1, polyalanine tract, premature ovarian failure, TRANSCRIPTION FACTOR-2 GENE, DROSOPHILA KRUPPEL PROTEIN, TRINUCLEOTIDE REPEATS, REPRESSION DOMAIN, FOXL2 GENE, POLYMORPHISM, MUTATIONS, IDENTIFICATION, AGGREGATION, EXPRESSION

ID: 4425417