A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Research Abstract Details 

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A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Abstract Text:

Sami Amr,Cindy Heisey,Min Zhang,Xia-Juan Xia,Kathryn H Shows,Kamel Ajlouni,Arti Pandya,Leslie S Satin,Hatem El-Shanti,Rita Shiang,

A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS). It had been shown that these families did not have mutations in the WFS1 gene (WFS1) but were mapped to the WFS2 locus at 4q22-25. A G-->C transversion at nucleotide 109 predicts an amino acid change from glutamic acid to glutamine (E37Q). Although the amino acid is conserved and the mutation is nonsynonymous, the pathogenesis for the disorder is because the mutation also causes aberrant splicing. The mutation was found to disrupt messenger RNA splicing by eliminating exon 2, and it results in the introduction of a premature stop codon. Mutations in WFS1 have also been found to cause low-frequency nonsyndromic hearing loss, progressive hearing loss, and isolated optic atrophy associated with hearing loss. Screening of 377 probands with hearing loss did not identify mutations in the WFS2 gene. The WFS1-encoded protein, Wolframin, is known to localize to the endoplasmic reticulum and plays a role in calcium homeostasis. The ZCD2-encoded protein, ERIS (endoplasmic reticulum intermembrane small protein), is also shown to localize to the endoplasmic reticulum but does not interact directly with Wolframin. Lymphoblastoid cells from affected individuals show a significantly greater rise in intracellular calcium when stimulated with thapsigargin, compared with controls, although no difference was observed in resting concentrations of intracellular calcium.

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Publishing Authors By Initials

S Amr,C Heisey,M Zhang,XJ Xia,KH Shows,K Ajlouni,A Pandya,LS Satin,H El-Shanti,R Shiang,

For similar zinc fingers research abstracts see: zinc fingers research

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A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Journal Published:

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

Journal: American journal of human genetics

VOLUME: 81

Page Numbers: 673-83

Journal Abbreviation: Am. J. Hum. Genet.

ISSN: 0002-9297

DAY: 20

MONTH: 08

YEAR: 2007

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 370475

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Keywords Mesh Terms:

KEYWORDS: Zinc Fingers

MESH TERMS: genetics

Chemical & Substance for Abstract: A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Information

Substance Name: DNA

Registry Number: 9007-49-2

Grant and Affiliation Information for A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

AFFILIATION: Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, USA.

Country: United States

AGENCY: United States NIDDK

GRANT: R01 DK46409RS

ACRONYM: DK

MEDLINETA: Am J Hum Genet

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