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- Title
THE ROLE OF PITX2 IN ANTERIOR SEGMENT DYSGENESIS IN MOUNTAIN HORSE BREEDS.
- Authors
Shannon, Heather E.; Lawrance, Simon
- Abstract
Anterior Segment Dysgenesis (ASD) is an ophthalmic disorder present in several breeds of Equus cabalus, and is especially prevalent in mountain horse breeds. This congenital disorder causes multiple abnormalities of the eye including cysts in the ciliary body, megalocornea, dyscoria, retinal dysplasia, and nuclear cataracts. Many ASD abnormalities are comparable to those seen in humans with Axenfeld-Reiger syndrome, which has been linked to mutations in the gene encoding the transcription factor, PITX2 (paired-like homeodomain transcription factor 2). PITX2 is a member of the Pitx homeobox gene family and is required for anterior segment development. The purpose of this study is to determine whether ASD in mountain horses is caused by a mutation in PITX2. The focus of the study has been exon 5 of PITX2. For this study, genomic DNA from 25 mountain horses with ASD and genomic DNA from 25 mountain horses without ASD will be extracted from hair follicles. Exon 5 of the PITX2 gene will be amplified using primers specific for the introns flanking exon 5. The DNA will then be sequenced and aligned using ClustalW to identify potential mutations. At present, equine DNA has been successfully isolated and the exon has been completely sequenced for several samples. It is anticipated that the results of this study will contribute toward a better understanding of the etiology of ASD as well as the creation of a diagnostic genetic test for ASD in mountain horse breeds.
- Subjects
TRANSCRIPTION factors; ANTERIOR eye segment; HORSE diseases; AXENFELD-Rieger syndrome; HOMEOBOX genes; EXONS (Genetics); INTRONS; DISEASES
- Publication
Ohio Journal of Science, 2008, Vol 108, Issue 1, pA-27
- ISSN
0030-0950
- Publication type
Article