PMID: 9445487Feb 21, 1998Paper

A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1

Genome Research
H StöhrB H Weber

Abstract

Best's vitelliform macular dystrophy is an autosomal dominant disorder of unknown causes. To identify the underlying gene defect the disease locus has been mapped to an approximately 1.4-Mb region on chromosome 11q12-q13.1. As a prerequisite for its positional cloning we have assembled a high coverage PAC contig of the candidate region. Here, we report the construction of a primary transcript map that places a total of 19 genes within the Best's disease region. This includes 14 transcripts of as yet unknown function obtained by EST mapping and/or cDNA selection and five genes mapped previously to the interval (CD5, PGA, DDB1, FEN1, and FTH1). Northern blot analyses were performed to determine the expression profiles in various human tissues. At least three genes appear to be good candidates for Best's disease based on their abundant expression in retina or retinal pigment epithelium. Additional information on the functional properties of these genes, as well as mutation analyses in Best's disease patients, have to await their further characterization. [The GenBank/EMBL accession numbers and details of the isolation, localization, and characterization of ESTs and selected cDNAs are available as online supplements in Online Table...Continue Reading

References

Jan 1, 1992·Cytogenetics and Cell Genetics·P PapadopoulosJ Drysdale
Dec 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·E C Uberbacher, R J Mural
May 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·A J BucklerD E Housman
Oct 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·M W HentzeR D Klausner
Sep 1, 1988·Archives of Ophthalmology·S O'GormanE L Berson
Jun 4, 1982·Science·C W Schmid, W R Jelinek
Apr 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M Church, W Gilbert
Aug 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·D BoydJ Drysdale
Jul 1, 1982·Archives of Ophthalmology·T A WeingeistR C Watzke
Aug 1, 1995·Human Genetics·C Y ValenzuelaJ C Alarcón
Jul 1, 1993·Human Molecular Genetics·J M RommensJ Nasir
Apr 1, 1995·Nature Genetics·F S Collins
Jul 1, 1994·Nature Genetics·C FieldsJ C Venter
Mar 1, 1993·Nature Genetics·W Gish, D J States
Jun 10, 1995·Analytical Biochemistry·S ParimooS M Weissman
Apr 2, 1996·Proceedings of the National Academy of Sciences of the United States of America·S QinT B Shows
Feb 1, 1996·Experimental Eye Research·K C DunnL M Hjelmeland
Sep 1, 1996·Molecular Medicine Today·L S Sullivan, S P Daiger
Jan 1, 1996·Cytogenetics and Cell Genetics·T B ShowsB Zabel

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Citations

Feb 24, 2001·Annals of the New York Academy of Sciences·J NiJ Klug
Nov 6, 2008·Documenta Ophthalmologica. Advances in Ophthalmology·Christina GerthElise Héon
Sep 20, 2008·Human Molecular Genetics·Melanie A KnightAndrew B Singleton
Oct 2, 2009·Journal of Pediatric Ophthalmology and Strabismus·Ryan RichNinel Gregori
Aug 4, 2011·Ophthalmic Genetics·Ian M MacDonaldRadha Ayyagari
Jun 8, 2002·Fungal Genetics and Biology : FG & B·Marco M KesslerGeorge H Shimer

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