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PMID: 10802646 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

Nature genetics ·Vol. 25 ·No. 1 ·2000-05-00 ·Pages 15-7

Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S

Abstract

Human inherited cataract is both clinically diverse and genetically heterogeneous. Here we report the identification of the first mutations affecting the major intrinsic protein of the lens, MIP, encoded by the gene MIP on 12q14. MIP is a member of the aquaporin family of membrane-bound water channels. The mutations identified are predicted to disturb water flux across the lens cell membrane.

MeSH Terms

Adult Amino Acid Sequence Aquaporins Cataract/classification,genetics Child Chromosomes, Human, Pair 12/genetics Eye Proteins/genetics Female Genes, Dominant/genetics Genetic Linkage/genetics Humans Male Membrane Glycoproteins/genetics Molecular Sequence Data Mutation, Missense/genetics Pedigree

Chemicals

Aquaporins Eye Proteins Membrane Glycoproteins aquaporin 0

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Berry V

Department of Molecular Genetics, Institute of Ophthalmology, London, UK.

Francis P

Kaushal S

Moore A

Bhattacharya S

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/75538

Published

2000-05-00

Pages

15-7

Language

English

Region

United States

NLM ID

9216904

Subset

External Links

PubMed source DOI: 10.1038/75538 View journal details

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Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

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