Gene Therapy Weekly

Research in the area of gene therapy reported from R.V. Jamieson and colleagues

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"This led to the discovery of a cluster of lens-derived expressed sequence tags (ESTs) close to the 16p13.3 breakpoint. This region harbors a locus associated with cataract and microphthalmia. Long-range PCR and 16p13.3 breakpoint sequencing identified genomic sequence in a human genome sequence gap, and allowed identification of a novel four-exon gene, designated TMEM114, which encodes a predicted protein of 223 amino acids. The breakpoint lies in the promoter region of TMEM114 and separates the gene from predicted eye-specific upstream transcription factor binding sites. There is sequence conservation among orthologs down to zebrafish. The protein is predicted to contain four transmembrane domains with homology to the lens intrinsic membrane protein, LIM2 (also known as MP20), in the PMP-22/EMP/MP20 family. TMEM114 mutation screening in 130 congenital cataract patients revealed missense mutations leading to the exchange of highly, conserved amino acids in the first extracellular domain of the protein (p.I35T, p.F106L) in two separate patients and their reportedly healthy sibling and mother, respectively. In the lens, Tmem114 shows expression in the lens epithelial cells extending into the transitional zone where early fiber differentiation occurs," wrote R.V. Jamieson and colleagues.

The researchers concluded: "Our findings implicate dysregulation of expression of this novel human gene, TMEM114, in mammalian cataract formation."

Jamieson and colleagues published their study in Human Mutation (Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. Human Mutation, 2007;28(10):968-977).

For more information, contact R.V. Jamieson, Children's Med Research Institute, Eye Genetics Group, 214 Hawkesbury Rd., Westmead, NSW 2145, Australia.

Publisher contact information for the journal Human Mutation is: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA.

Keywords: Australia, Westmead, Amino Acids, Biotechnology, Congenital Cataracts, Drugs, Gene Therapy, Ophthalmology, Pharmaceuticals, Treatment.

This article was prepared by Gene Therapy Weekly editors from staff and other reports. Copyright 2008, Gene Therapy Weekly via NewsRx.com.