PMID- 10521291
OWN - NLM
STAT- MEDLINE
DCOM- 19991210
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 5
DP  - 1999 Nov
TI  - The gamma-crystallins and human cataracts: a puzzle made clearer.
PG  - 1261-7
AB  - Despite the fact that cataracts constitute the leading cause of blindness
      worldwide, the mechanisms of lens opacification remain unclear. We recently
      mapped the aculeiform cataract to the gamma-crystallin locus (CRYG) on chromosome
      2q33-35, and mutational analysis of the CRYG-genes cluster identified the
      aculeiform-cataract mutation in exon 2 of gamma-crystallin D (CRYGD). This
      mutation occurred in a highly conserved amino acid and could be associated with
      an impaired folding of CRYGD. During our study, we observed that the previously
      reported Coppock-like-cataract mutation, the first human cataract mutation, in
      the pseudogene CRYGE represented a polymorphism seen in 23% of our control
      population. Further analysis of the original Coppock-like-cataract family
      identified a missense mutation in a highly conserved segment of exon 2 of CRYGC. 
      These mutations were not seen in a large control population. There is no direct
      evidence, to date, that up-regulation of a pseudogene causes cataracts. To our
      knowledge, these findings are the first evidence of an involvement of CRYGC and
      support the role of CRYGD in human cataract formation.
FAU - Heon, E
AU  - Heon E
AD  - Eye Research Institute of Canada, Toronto, Ontario, Canada.
      eheon@playfair.utoronto.ca
FAU - Priston, M
AU  - Priston M
FAU - Schorderet, D F
AU  - Schorderet DF
FAU - Billingsley, G D
AU  - Billingsley GD
FAU - Girard, P O
AU  - Girard PO
FAU - Lubsen, N
AU  - Lubsen N
FAU - Munier, F L
AU  - Munier FL
LA  - eng
SI  - GENBANK/K03003
SI  - GENBANK/K03005
SI  - GENBANK/K03006
SI  - GENBANK/K03008
SI  - GENBANK/M19364
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Crystallins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Cataract/ethnology/*genetics/pathology
MH  - Crystallins/*genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Models, Molecular
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Genetic
MH  - Promoter Regions, Genetic
MH  - Protein Structure, Secondary
MH  - Protein Structure, Tertiary
MH  - Sequence Homology, Amino Acid
PMC - PMC1288278
EDAT- 1999/10/16 09:00
MHDA- 2000/03/21 09:00
CRDT- 1999/10/16 09:00
PHST- 1999/10/16 09:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/10/16 09:00 [entrez]
AID - S0002-9297(07)62132-6 [pii]
AID - 10.1086/302619 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Nov;65(5):1261-7. doi: 10.1086/302619.