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Analysis of the Gene and Protein Causing Best Macular Dystrophy
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology.
2003 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Best macular dystrophy (BMD) is an autosomal dominant inherited eye disease with a juvenile onset. Accumulation of the pigment lipofuscin in the retinal pigment epithelium can later cause macular degeneration and loss of vision. BMD have histopathologic similarities with age-related macular degeneration, the most common cause of blindness among elderly. BMD diagnosis is made with fundus examination and electrophysiology. The VMD2 gene, causing BMD, has previously been localized to 11q13 using linkage and recombination of a 12 generation family with BMD.

In this study the genetic region has been further narrowed using polymorphic markers in the BMD family. A human homolog for a C. elegans protein family, expressed in retina, was identified as the VMD2 gene. It has a 1755 bp open reading frame with 11 exons and encodes a 585 amino acid protein called bestrophin. Mutation analysis of the VMD2 gene in BMD families from Sweden, Denmark and Netherlands revealed 15 missense mutations, altering single amino acids in bestrophin, accumulating in the N-terminal half of the protein. VMD2 expression analysis with in situ hybridization revealed specific localization in the retinal pigment epithelium and Northern blot showed expression in retina and brain. Clinical and genetic analysis of a BMD family with generally late onset revealed a novel bestrophin mutation.

Analysis of mouse Vmd2 and bestrophin during development showed presence of mouse bestrophin in retinal pigment epithelium at postnatal day 10 and in photoreceptor outer segments during the entire postnatal period. Vmd2 expression levels were highest around birth.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis , 2003. , p. 42
Series
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 0282-7476 ; 1216
Keywords [en]
Genetics, VMD2, bestrophin, macular degenration, mutation analysis
Keywords [sv]
Genetik
National Category
Medical Genetics
Research subject
Clinical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-3220ISBN: 91-554-5494-1 (print)OAI: oai:DiVA.org:uu-3220DiVA, id: diva2:162260
Public defence
2003-01-17, Rudbecksalen, Uppsala, 13:15
Opponent
Available from: 2002-12-17 Created: 2002-12-17 Last updated: 2018-01-13Bibliographically approved
List of papers
1. Identification of the gene responsible for Best macular dystrophy
Open this publication in new window or tab >>Identification of the gene responsible for Best macular dystrophy
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1998 In: Nat Genet, Vol. 19, p. 241-247Article in journal (Refereed) Published
Identifiers
urn:nbn:se:uu:diva-90081 (URN)
Available from: 2002-12-17 Created: 2002-12-17Bibliographically approved
2. The mutation spectrum of the bestrophin protein - functional implications
Open this publication in new window or tab >>The mutation spectrum of the bestrophin protein - functional implications
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1999 In: Hum Genet, Vol. 104, p. 383-389Article in journal (Refereed) Published
Identifiers
urn:nbn:se:uu:diva-90082 (URN)
Available from: 2002-12-17 Created: 2002-12-17Bibliographically approved
3. Best's vitelliform macular dystrophy caused by a new mutation
Open this publication in new window or tab >>Best's vitelliform macular dystrophy caused by a new mutation
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2001 In: Ophthalmic Genet, Vol. 22, p. 107-115Article in journal (Refereed) Published
Identifiers
urn:nbn:se:uu:diva-90083 (URN)
Available from: 2002-12-17 Created: 2002-12-17Bibliographically approved
4. Mouse Vmd2 expression and bestrophin localization during normal development
Open this publication in new window or tab >>Mouse Vmd2 expression and bestrophin localization during normal development
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Manuscript (Other academic)
Identifiers
urn:nbn:se:uu:diva-90084 (URN)
Available from: 2002-12-17 Created: 2002-12-17 Last updated: 2010-01-13Bibliographically approved

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