CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Research Abstract Details 

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CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Abstract Text:

Alan Shiels,Thomas M Bennett,Harry L S Knopf,Koki Yamada,Koh-ichiro Yoshiura,Norio Niikawa,Soomin Shim,Phyllis I Hanson,

Cataracts are a clinically diverse and genetically heterogeneous disorder of the crystalline lens and a leading cause of visual impairment. Here we report linkage of autosomal dominant "progressive childhood posterior subcapsular" cataracts segregating in a white family to short tandem repeat (STR) markers D20S847 (LOD score [Z] 5.50 at recombination fraction [theta] 0.0) and D20S195 (Z=3.65 at theta =0.0) on 20q, and identify a refined disease interval (rs2057262-(3.8 Mb)-rs1291139) by use of single-nucleotide polymorphism (SNP) markers. Mutation profiling of positional-candidate genes detected a heterozygous transversion (c.386A-->T) in exon 3 of the gene for chromatin modifying protein-4B (CHMP4B) that was predicted to result in the nonconservative substitution of a valine residue for a phylogenetically conserved aspartic acid residue at codon 129 (p.D129V). In addition, we have detected a heterozygous transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar cataracts in a Japanese family that was predicted to result in the missense substitution of lysine for a conserved glutamic acid residue at codon 161 (p.E161K). Transfection studies of cultured cells revealed that a truncated form of recombinant D129V-CHMP4B had a different subcellular distribution than wild type and an increased capacity to inhibit release of virus-like particles from the cell surface, consistent with deleterious gain-of-function effects. These data provide the first evidence that CHMP4B, which encodes a key component of the endosome sorting complex required for the transport-III (ESCRT-III) system of mammalian cells, plays a vital role in the maintenance of lens transparency.

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Publishing Authors By Initials

A Shiels,TM Bennett,HL Knopf,K Yamada,K Yoshiura,N Niikawa,S Shim,PI Hanson,

For similar investigative techniques: genetic techniques: gene transfer techniques: transfection research abstracts see: investigative techniques: genetic techniques: gene transfer techniques: transfection research

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CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: American journal of human genetics

VOLUME: 81

Page Numbers: 596-606

Journal Abbreviation: Am. J. Hum. Genet.

ISSN: 0002-9297

DAY: 27

MONTH: 07

YEAR: 2007

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Information

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LANGUAGE: eng

NlmUniqueID: 370475

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Keywords Mesh Terms:

KEYWORDS: Transfection

MESH TERMS: genetics

Chemical & Substance for Abstract: CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Information

Substance Name: Lysine

Registry Number: 56-87-1

Grant and Affiliation Information for CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.

AFFILIATION: Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA. shiels@vision.wustl.edu

Country: United States

AGENCY: United States NEI

GRANT: EY02687

ACRONYM: EY

MEDLINETA: Am J Hum Genet

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