Document Detail

Mapping of a macular drusen susceptibility locus in rhesus macaques to the homologue of human chromosome 6q14-15.
MedLine Citation:
PMID:  16185951     Owner:  NLM     Status:  MEDLINE    
Rhesus macaques (Macaca mulatta) are a natural model for retinal drusen formation. The present study aimed at clarifying whether chromosomal regions homologous to candidate genes for drusen formation and progression in humans are also associated with a drusen phenotype in rhesus macaques. Some 42 genetic markers from seven chromosomal regions implicated in macular degeneration syndromes in humans were tested for whether they identified homologous, polymorphic sequences in rhesus DNA. This was found to be the case for seven markers, all of which were subsequently screened for the presence of potentially disease-predisposing alleles in 52 randomly chosen adult animals from the Cayo Santiago population of rhesus macaques (Caribbean Primate Research Center, PR, USA). The high drusen prevalence expected in the Cayo Santiago colony was confirmed in our sample in that 38 animals were found to have drusen (73%). Logistic regression analysis revealed that some alleles of the rhesus homologue of anonymous human marker D6S1036 were consistently over-represented among affected animals. Of two candidate genes located in the respective region, allelic variation in one (IMPG1) showed strong association with drusen formation. We conclude that one or more genes located at the rhesus homologue of human 6q14-15 are likely to play a role in retinal drusen formation, a finding that represents a first step towards the identification of genetic factors implicated in macular drusen formation in rhesus macaques. This is an important tool for the separation of genetic and environmental factors which must occur before satisfactory management methods can be developed.
Krishna K Singh; Steven Ristau; William W Dawson; Michael Krawczak; Jörg Schmidtke
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Experimental eye research     Volume:  81     ISSN:  0014-4835     ISO Abbreviation:  Exp. Eye Res.     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-09-27     Completed Date:  2005-12-13     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0370707     Medline TA:  Exp Eye Res     Country:  England    
Other Details:
Languages:  eng     Pagination:  401-6     Citation Subset:  IM    
Institut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany.
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MeSH Terms
Chromosome Mapping / methods
Chromosomes, Human, Pair 6 / genetics*
Disease Models, Animal
Gene Frequency
Genetic Markers
Genetic Predisposition to Disease*
Macaca mulatta
Macular Degeneration / genetics
Retinal Drusen / genetics*
Grant Support
Reg. No./Substance:
0/Genetic Markers

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

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