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The mutations and potential targets of the forkhead transcription factor FOXL2
Mutations of FOXL2, a gene encoding a forkhead transcription factor, have been shown to cause the blepharophimosis–ptosis–epicanthus inversus syndrome (BPES). This genetic disorder is characterized by eyelid and mild craniofacial abnormalities that can appear associated with premature ovarian failur...
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Published in: | Molecular and cellular endocrinology 2008-01, Vol.282 (1), p.2-11 |
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Main Authors: | , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | Mutations of
FOXL2, a gene encoding a forkhead transcription factor, have been shown to cause the blepharophimosis–ptosis–epicanthus inversus syndrome (BPES). This genetic disorder is characterized by eyelid and mild craniofacial abnormalities that can appear associated with premature ovarian failure. FOXL2 is one of the earliest ovarian markers and it offers, along with its targets, an excellent model to study ovarian development and function in normal and pathological conditions. In this review we summarize recent data concerning FOXL2, its mutations and its potential targets. Indeed, many mutations have been described in the coding sequence of
FOXL2. Among them, polyalanine expansions and premature nonsense mutations have been shown to induce protein aggregation. In the context of the ovary, FOXL2 has been suggested to be involved in the regulation of cholesterol and steroid metabolism, apoptosis, reactive oxygen species detoxification and inflammation processes. The elucidation of the impact of FOXL2 mutations on its function will allow a better understanding of the pathogenic mechanisms underlying the BPES phenotype. |
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ISSN: | 0303-7207 1872-8057 0303-7207 |
DOI: | 10.1016/j.mce.2007.11.006 |