PMID- 10201536
OWN - NLM
STAT- MEDLINE
DCOM- 19990421
LR  - 20071114
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 112
IP  - 4
DP  - 1999 Apr
TI  - A novel substitution in keratin 10 in epidermolytic hyperkeratosis.
PG  - 506-8
AB  - Epidermolytic hyperkeratosis is characterized by tonofilament clumping,
      cytolysis, and blister formation in suprabasal keratinocytes. It has been shown
      that the tonofilament aggregates in these areas are composed of keratin 1 (K1)
      and keratin 10 (K10), and several K1 and K10 point mutations have been identified
      as the molecular basis of epidermolytic hyperkeratosis. In this report we
      identify a novel, single base pair substitution resulting in an amino acid
      exchange from tyrosine to serine at residue 14 within the conserved 1A region of 
      K10 (Y14S). This A to C transversion in codon 160 was only present in the
      affected individual and was associated with a very severe disease phenotype. Our 
      observations are in agreement with previous reports documenting that this
      tyrosine residue, located at the beginning of the rod domain of type I keratins, 
      is particularly sensitive to amino acid substitutions, and that alterations in
      this residue can have deleterious effects on filament assembly and stability.
FAU - Arin, M J
AU  - Arin MJ
AD  - Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030,
      USA.
FAU - Longley, M A
AU  - Longley MA
FAU - Anton-Lamprecht, I
AU  - Anton-Lamprecht I
FAU - Kurze, G
AU  - Kurze G
FAU - Huber, M
AU  - Huber M
FAU - Hohl, D
AU  - Hohl D
FAU - Rothnagel, J A
AU  - Rothnagel JA
FAU - Roop, D R
AU  - Roop DR
LA  - eng
GR  - HD25479/HD/NICHD 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  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 0 (KRT10 protein, human)
RN  - 147785-83-9 (Keratin-10)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Hyperkeratosis, Epidermolytic/*genetics/pathology
MH  - Keratin-10
MH  - Keratins/chemistry/*genetics
MH  - Male
MH  - *Point Mutation
EDAT- 1999/04/14 00:00
MHDA- 1999/04/14 00:01
CRDT- 1999/04/14 00:00
PHST- 1999/04/14 00:00 [pubmed]
PHST- 1999/04/14 00:01 [medline]
PHST- 1999/04/14 00:00 [entrez]
AID - 10.1046/j.1523-1747.1999.00557.x [doi]
AID - S0022-202X(15)40456-7 [pii]
PST - ppublish
SO  - J Invest Dermatol. 1999 Apr;112(4):506-8. doi: 10.1046/j.1523-1747.1999.00557.x.