2. Academic Validation
  3. Identification of the gene responsible for Best macular dystrophy

Identification of the gene responsible for Best macular dystrophy

  • Nat Genet. 1998 Jul;19(3):241-7. doi: 10.1038/915.
K Petrukhin 1,  M J Koisti,  B Bakall,  W Li,  G Xie,  T Marknell,  O Sandgren,  K Forsman,  G Holmgren,  S Andreasson,  M Vujic,  A A Bergen,  V McGarty-Dugan,  D Figueroa,  C P Austin,  M L Metzker,  C T Caskey,  C Wadelius
Affiliations

Affiliation

  • 1 Department of Human Genetics, Merck Research Laboratories, West Point, Pennsylvania 19486, USA. [email protected]
PMID: 9662395 DOI: 10.1038/915
Abstract

Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. In pursuit of the disease gene, we limited the minimum genetic region by recombination breakpoint analysis and mapped to this region a novel retina-specific gene (VMD2). Genetic mapping data, identification of five independent disease-specific mutations and expression studies provide evidence that mutations within the candidate gene are a cause of BMD. The 3' UTR of the candidate gene contains a region of antisense complementarity to the 3' UTR of the ferritin heavy-chain gene (FTH1), indicating the possibility of antisense interaction between VMD2 and FTH1 transcripts.

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