Abstract:
:Friedreich ataxia results from frataxin insufficiency caused by repeat expansion in intron 1 of the frataxin gene. Since the coding sequence is unchanged, the potential exists to ameliorate symptoms by increasing frataxin promoter activity. We therefore defined the minimal frataxin promoter in humans. Despite the fact that frataxin is an essential gene, its promoter is not well conserved in mammals, in part because it has been the frequent target of retroelement insertions. Most of the activity of the human frataxin promoter can be attributed to these retroelements, illustrating how these elements, considered parasitic by some, have been co-opted to drive critical genes. Individuals with the milder French Acadian form and those with the classic form of the disease have no biologically relevant sequence differences in the promoter or 3' UTR, suggesting that some other region of the gene, perhaps the repeat itself, is responsible for the difference in disease severity.
journal_name
Genomicsjournal_title
Genomicsauthors
Greene E,Entezam A,Kumari D,Usdin Kdoi
10.1016/j.ygeno.2004.10.013subject
Has Abstractpub_date
2005-02-01 00:00:00pages
221-30issue
2eissn
0888-7543issn
1089-8646pii
S0888-7543(04)00301-5journal_volume
85pub_type
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