PMID- 10023043
OWN - NLM
STAT- MEDLINE
DCOM- 19990413
LR  - 20190707
IS  - 0378-1119 (Print)
IS  - 0378-1119 (Linking)
VI  - 227
IP  - 2
DP  - 1999 Feb 18
TI  - Genomic organization and promoter characterization of two human UHS keratin
      genes.
PG  - 137-48
AB  - TTD is a rare human genetic disease caused by mutations in XPB and XPD, two
      subunits of the transcription/repair factor TFIIH, and whose outstanding clinical
      characteristic is a lack of most human UHS proteins resulting in sulfur-deficient
      brittle hair. In an attempt to understand this transcription defect, we report
      here the genomic cloning of two highly related UHS keratin genes specifically
      expressed in follicular and epidermal cells. In addition to a high degree of
      nucleotide homology (87%), both genes also have a similar 90-nt promoter
      sequence. In-vivo and in-vitro studies allowed us to specify the position of the 
      start sites, the TATA-boxes and some regulatory regions. Results indicate that
      both genes present common features in the regulation of their transcription and
      suggest that control of their expression might be affected by mutations in TFIIH 
      subunits.
FAU - Perez, C
AU  - Perez C
AD  - Institut de Genetique et de Biologie Moleculaire et Cellulaire, BP 163, F-67404, 
      Illkirch Cedex, Universite Louis Pasteur, Strasbourg, France.
FAU - Auriol, J
AU  - Auriol J
FAU - Gerst, C
AU  - Gerst C
FAU - Bernard, B A
AU  - Bernard BA
FAU - Egly, J M
AU  - Egly JM
LA  - eng
SI  - GENBANK/AB017808
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (Transcription Factors)
RN  - 0 (Transcription Factors, TFII)
RN  - 148710-81-0 (Transcription Factor TFIIH)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Cloning, Molecular
MH  - DNA Repair/genetics
MH  - Gene Expression Regulation/genetics
MH  - Hair Diseases/genetics
MH  - Humans
MH  - Keratinocytes
MH  - Keratins/*genetics
MH  - Molecular Sequence Data
MH  - Promoter Regions, Genetic/*genetics
MH  - Restriction Mapping
MH  - Sequence Analysis, DNA
MH  - Sequence Homology, Amino Acid
MH  - Transcription Factor TFIIH
MH  - Transcription Factors/genetics
MH  - *Transcription Factors, TFII
MH  - Transcription, Genetic/genetics
EDAT- 1999/02/19 00:00
MHDA- 1999/02/19 00:01
CRDT- 1999/02/19 00:00
PHST- 1999/02/19 00:00 [pubmed]
PHST- 1999/02/19 00:01 [medline]
PHST- 1999/02/19 00:00 [entrez]
AID - S0378-1119(98)00616-7 [pii]
AID - 10.1016/s0378-1119(98)00616-7 [doi]
PST - ppublish
SO  - Gene. 1999 Feb 18;227(2):137-48. doi: 10.1016/s0378-1119(98)00616-7.