Journal
HUMAN MUTATION
Volume 32, Issue 1, Pages E1939-E1947Publisher
WILEY
DOI: 10.1002/humu.21386
Keywords
CRYGD; autosomal dominant congenital cataract; ADCC); structure
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Funding
- National Science & Technology Pillar Program of China [2008BAH24B05]
- Qingdao Municipal Science and Technology Bureau [07-2-3-8-jch, 02KGYSH-01]
- National Infrastructure Program of Chinese Genetic Resources [2006DKA21300]
- National Natural Science Foundation of China [30970559]
- State Key Laboratory of Biomembrane and Membrane Biotechnology
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To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family, molecular genetic investigation via haplotype analysis and direct sequencing were performed Sequencing of the CRYGD gene revealed a c.127T>C transition, which resulted in a substitution of a highly conserved tryptophan with arginine at codon 43 (p.Trp43Arg). This mutation co-segregated with all affected individuals and was not observed in either unaffected family members or in 200 normal unrelated individuals. Biophysical studies indicated that the p.Trp43Arg mutation resulted in significant tertiary structural changes. The mutant protein was much less stable than the wild-type protein, and was more prone to aggregate when subjected to environmental stresses such as heat and UV irradiation. (C) 2010 Wiley-Liss, Inc.
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