Identification of the gene responsible for Best macular dystrophy

K. Petrukhin; 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

doi:https://doi.org/10.1038/915

Identification of the gene responsible for Best macular dystrophy

K. Petrukhin, 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

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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

Original language	English
Pages (from-to)	241-247
Journal	Nature Genetics
Volume	19
Issue number	3
DOIs	https://doi.org/10.1038/915
Publication status	Published - 1998

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Petrukhin, K., Koisti, M. J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., Vujic, M., Bergen, A. A., McGarty-Dugan, V., Figueroa, D., Austin, C. P., Metzker, M. L., Caskey, C. T., & Wadelius, C. (1998). Identification of the gene responsible for Best macular dystrophy. Nature Genetics, 19(3), 241-247. https://doi.org/10.1038/915

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title = "Identification of the gene responsible for Best macular dystrophy",

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",

author = "K. Petrukhin and Koisti, {M. J.} and B. Bakall and W. Li and G. Xie and T. Marknell and O. Sandgren and K. Forsman and G. Holmgren and S. Andreasson and M. Vujic and Bergen, {A. A.} and V. McGarty-Dugan and D. Figueroa and Austin, {C. P.} and Metzker, {M. L.} and Caskey, {C. T.} and C. Wadelius",

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T1 - Identification of the gene responsible for Best macular dystrophy

AU - Petrukhin, K.

AU - Koisti, M. J.

AU - Bakall, B.

AU - Li, W.

AU - Xie, G.

AU - Marknell, T.

AU - Sandgren, O.

AU - Forsman, K.

AU - Holmgren, G.

AU - Andreasson, S.

AU - Vujic, M.

AU - Bergen, A. A.

AU - McGarty-Dugan, V.

AU - Figueroa, D.

AU - Austin, C. P.

AU - Metzker, M. L.

AU - Caskey, C. T.

AU - Wadelius, C.

PY - 1998

Y1 - 1998

N2 - 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

AB - 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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DO - https://doi.org/10.1038/915

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JO - Nature Genetics

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