A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

Kang Zhang, Marina Kniazeva, Min Han, Wen Li, Zhengya Yu, Zhenglin Yang, Yang Li, Michael L. Metzker, Rando Allikmets, Donald J Zack, Laura E. Kakuk, Pamela S. Lagali, Paul W. Wong, Ian M. MacDonald, Paul A. Sieving, David J. Figueroa, Christopher P. Austin, Robert J. Gould, Radha Ayyagari, Konstantin Petrukhin

Research output: Contribution to journalArticle

Abstract

Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal dominant macular dystrophy (adMD) are inherited forms of macular degeneration characterized by decreased visual acuity, macular atrophy and extensive fundus flecks1-3. Genetic mapping data suggest that mutations in a single gene may be responsible for both conditions, already known to bear clinical resemblance1-3. Here we limit the minimum genetic region for STGD3 and adMD to a 0.6cM interval by recombination breakpoint mapping and identify a single 5-bp deletion within the protein-coding region of a new retinal photoreceptor-specific gene, ELOVL4, in all affected members of STGD3 and adMD families. Bioinformatic analysis of ELOVL4 revealed that it has homology to a group of yeast proteins that function in the biosynthesis of very long chain fatty acids. Our results are therefore the first to implicate the biosynthesis of fatty acids in the pathogenesis of inherited macular degeneration.

Original languageEnglish (US)
Pages (from-to)89-93
Number of pages5
JournalNature Genetics
Volume27
Issue number1
DOIs
StatePublished - 2001

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Macular Degeneration
Fatty Acids
Vertebrate Photoreceptor Cells
Fungal Proteins
Computational Biology
Genetic Recombination
Open Reading Frames
Genes
Visual Acuity
Atrophy
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Zhang, K., Kniazeva, M., Han, M., Li, W., Yu, Z., Yang, Z., ... Petrukhin, K. (2001). A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nature Genetics, 27(1), 89-93. https://doi.org/10.1038/83817

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. / Zhang, Kang; Kniazeva, Marina; Han, Min; Li, Wen; Yu, Zhengya; Yang, Zhenglin; Li, Yang; Metzker, Michael L.; Allikmets, Rando; Zack, Donald J; Kakuk, Laura E.; Lagali, Pamela S.; Wong, Paul W.; MacDonald, Ian M.; Sieving, Paul A.; Figueroa, David J.; Austin, Christopher P.; Gould, Robert J.; Ayyagari, Radha; Petrukhin, Konstantin.

In: Nature Genetics, Vol. 27, No. 1, 2001, p. 89-93.

Research output: Contribution to journalArticle

Zhang, K, Kniazeva, M, Han, M, Li, W, Yu, Z, Yang, Z, Li, Y, Metzker, ML, Allikmets, R, Zack, DJ, Kakuk, LE, Lagali, PS, Wong, PW, MacDonald, IM, Sieving, PA, Figueroa, DJ, Austin, CP, Gould, RJ, Ayyagari, R & Petrukhin, K 2001, 'A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy', Nature Genetics, vol. 27, no. 1, pp. 89-93. https://doi.org/10.1038/83817
Zhang, Kang ; Kniazeva, Marina ; Han, Min ; Li, Wen ; Yu, Zhengya ; Yang, Zhenglin ; Li, Yang ; Metzker, Michael L. ; Allikmets, Rando ; Zack, Donald J ; Kakuk, Laura E. ; Lagali, Pamela S. ; Wong, Paul W. ; MacDonald, Ian M. ; Sieving, Paul A. ; Figueroa, David J. ; Austin, Christopher P. ; Gould, Robert J. ; Ayyagari, Radha ; Petrukhin, Konstantin. / A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. In: Nature Genetics. 2001 ; Vol. 27, No. 1. pp. 89-93.
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