PMID- 10644419
OWN - NLM
STAT- MEDLINE
DCOM- 20000309
LR  - 20071114
IS  - 0014-4835 (Print)
IS  - 0014-4835 (Linking)
VI  - 70
IP  - 1
DP  - 2000 Jan
TI  - Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations
      in keratin 12 (K12) and complete sequence of the human KRT12 gene.
PG  - 41-9
AB  - Recently, we identified the first mutations in corneal keratins K3 and K12 in
      families with Meesmann's corneal dystrophy (MCD). Here, we sequenced all regions 
      of the human K12 gene, to enable mutation detection for all exons using genomic
      DNA as a template. The human K12 genomic sequence spans 5919 bp and consists of
      eight exons. A microsatellite dinucleotide repeat was identified within intron 3,
      which was highly polymorphic and which we developed for use in genotype analysis.
      In addition, two mutations in the helix initiation motif of K12 were found in
      families with MCD. A novel mutation was detected in an American kindred,
      410T-->C, which predicts the amino acid substitution M129T. In a German family,
      mutation 428G-->C was identified, predicting amino acid change R135T. The latter 
      mutation was identical to that which we identified in the original kindred
      described by Meesmann. Using the intragenic microsatellite polymorphism in K12
      and additional flanking markers, we were able to show that this family shares a
      common haplotype with the original Meesmann kindred. These results strongly imply
      that R135T represents an ancestral mutation in the German population. Both
      mutations occur in the highly conserved helix initiation motif of the K12
      polypeptide. A total of eight mutations have now been reported in the K12 gene.
CI  - Copyright 2000 Academic Press.
FAU - Corden, L D
AU  - Corden LD
AD  - Epithelial Genetics Group, Department of Dermatology and Cutaneous Biology,
      Jefferson Medical College, 233 South 10th Street, Philadelphia, PA, 19107, USA.
FAU - Swensson, O
AU  - Swensson O
FAU - Swensson, B
AU  - Swensson B
FAU - Smith, F J
AU  - Smith FJ
FAU - Rochels, R
AU  - Rochels R
FAU - Uitto, J
AU  - Uitto J
FAU - McLEAN, W H
AU  - McLEAN WH
LA  - eng
GR  - P01AR38923/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Exp Eye Res
JT  - Experimental eye research
JID - 0370707
RN  - 0 (Genetic Markers)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Corneal Dystrophies, Hereditary/*genetics
MH  - Exons/genetics
MH  - Genetic Markers/genetics
MH  - Genotype
MH  - Humans
MH  - Keratins/*genetics
MH  - Male
MH  - Microsatellite Repeats
MH  - *Mutation, Missense
MH  - Polymorphism, Genetic
MH  - Sequence Analysis, DNA
EDAT- 2000/01/25 09:00
MHDA- 2000/03/11 09:00
CRDT- 2000/01/25 09:00
PHST- 2000/01/25 09:00 [pubmed]
PHST- 2000/03/11 09:00 [medline]
PHST- 2000/01/25 09:00 [entrez]
AID - 10.1006/exer.1999.0769 [doi]
AID - S0014-4835(99)90769-8 [pii]
PST - ppublish
SO  - Exp Eye Res. 2000 Jan;70(1):41-9. doi: 10.1006/exer.1999.0769.