Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.

Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Research Abstract Details 

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Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Abstract Text:

J Bronwyn Bateman,Fernando R Barria von-Bischhoffshaunsen,Leslie Richter,Pamela Flodman,Douglas Burch,M Anne Spence,

PURPOSE: To map and identify the mutated gene for autosomal dominant cataract (ADC) in a large Chilean family (ADC53). DESIGN: Experimental study. PARTICIPANTS: Large Chilean family with ADCs. METHODS: Linkage analyses using genome-wide polymorphic DNA markers were performed on a family with variable expression of cataracts to map the mutated gene to a chromosome; 2-point lod scores were calculated. Candidate genes in the region of the maximum lod score were sequenced. We compared haplotypes (alleles at closely linked markers) in families with previously reported mutations of the crystallin, beta-B2 gene (CRYBB2). MAIN OUTCOME MEASURES: Identification of the causative mutation in the ADC53 family. RESULTS: The ADC locus mapped to chromosome 22 in the region of a cluster of lens beta crystallin genes (CRYBB3, CRYBB2, CRYBB1, and CRYBA4 and the pseudogene CRYBB2P1). We sequenced CRYBB1 and CRYBB2 and found a previously reported mutation and a variant in exon 6 of CRYBB2 that cosegregate with the disease; these changes in CRYBB2 are in the reference (normal) sequence of an adjacent gene CRYBB2P1, a pseudogene. The haplotypes in the ADC53 Chilean family were different from the 2 previously reported families with the mutation. CONCLUSIONS: The cataracts in the ADC53 Chilean family are caused by a mutation in the CRYBB2 gene; as the 2 variations in CRYBB2 are identical to the reference sequence of pseudogene CRYBB2P1, which has over 97% homology to CRYBB2, a gene conversion probably has occurred. Based on haplotype analyses, the mutation and variant are likely to be caused by independent gene conversions in our family and the previously reported families.

Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Publishing Authors By Initials

JB Bateman,FR von-Bischhoffshaunsen,L Richter,P Flodman,D Burch,MA Spence,

For similar proteins: eye proteins: crystallins: beta-crystallins: beta-crystallin b chain research abstracts see: proteins: eye proteins: crystallins: beta-crystallins: beta-crystallin b chain research

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Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Ophthalmology

VOLUME: 114

Page Numbers: 425-32

Journal Abbreviation: Ophthalmology

ISSN: 1549-4713

DAY: 17

MONTH: 01

YEAR: 2007

Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 7802443

Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Keywords Mesh Terms:

KEYWORDS: beta-Crystallin B Chain

MESH TERMS: genetics

Chemical & Substance for Abstract: Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Information

Substance Name: beta-crystallin B2

Registry Number: 0

Grant and Affiliation Information for Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.

AFFILIATION: Department of Ophthalmology, Rocky Mountain Lions Eye Institute, Denver, Colorado, USA. bronwyn.bateman@uchsc.edu

Country: United States

AGENCY: United States NEI

GRANT: EY08282

ACRONYM: EY

MEDLINETA: Ophthalmology

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