Document Detail


Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.
MedLine Citation:
PMID:  16806805     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cone-rod dystrophy 1 (cord1) is a recessive condition that occurs naturally in miniature longhaired dachshunds (MLHDs). We mapped the cord1 locus to a region of canine chromosome CFA15 that is syntenic with a region of human chromosome 14 (HSA14q11.2) containing the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) gene. Mutations in RPGRIP1 have been shown to cause Leber congenital amaurosis, a group of retinal dystrophies that represent the most common genetic causes of congenital visual impairment in infants and children. Using the newly available canine genome sequence we sequenced RPGRIP1 in affected and carrier MLHDs and identified a 44-nucleotide insertion in exon 2 that alters the reading frame and introduces a premature stop codon. All affected and carrier dogs within an extended inbred pedigree were homozygous and heterozygous, respectively, for the mutation. We conclude the mutation is responsible for cord1 and demonstrate that this canine disease is a valuable model for exploring disease mechanisms and potential therapies for human Leber congenital amaurosis.
Authors:
C S Mellersh; M E G Boursnell; L Pettitt; E J Ryder; N G Holmes; D Grafham; O P Forman; J Sampson; K C Barnett; S Blanton; M M Binns; M Vaudin
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Publication Detail:
Type:  Journal Article     Date:  2006-06-27
Journal Detail:
Title:  Genomics     Volume:  88     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2006 Sep 
Date Detail:
Created Date:  2006-08-28     Completed Date:  2006-10-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  293-301     Citation Subset:  IM    
Affiliation:
Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU, UK. cathryn.mellersh@aht.org.uk
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MeSH Terms
Descriptor/Qualifier:
Animals
Child
Child, Preschool
Chromosomes, Human, Pair 14 / genetics*
Codon, Nonsense*
DNA Mutational Analysis
Disease Models, Animal
Dogs
Exons / genetics
Humans
Infant
Mutagenesis, Insertional*
Optic Atrophy, Hereditary, Leber / genetics*
Pedigree
Proteins / genetics*
Chemical
Reg. No./Substance:
0/Codon, Nonsense; 0/Proteins; 0/RPGRIP1 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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