PMID- 10198167
OWN - NLM
STAT- MEDLINE
DCOM- 19990506
LR  - 20061115
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 57
IP  - 2
DP  - 1999 Apr 15
TI  - Identification of a putative transcription factor gene (WBSCR11) that is commonly
      deleted in Williams-Beuren syndrome.
PG  - 279-84
AB  - Williams-Beuren syndrome (WBS) is a complex developmental disorder involving the 
      hemizygous deletion of genes on chromosome 7q11.23. The cardiovascular aspects of
      the disorder are known to be caused by haploinsufficiency for ELN, but the genes 
      contributing to the other features of WBS are still undetermined. Fifteen genes
      have been shown to reside within the WBS deletion, and here we report the
      identification and cloning of an additional gene that is commonly deleted.
      WBSCR11, which was identified through genomic DNA sequence analysis and cDNA
      library screening, was positioned toward the telomeric end of the WBS deletion.
      The gene is expressed in all adult tissues analyzed, including many regions of
      the brain. The predicted protein displays homology to another gene from the WBS
      deletion, GTF2I, which is known to be a transcription factor. We postulate that
      WBSCR11 is also a transcription factor and may contribute to the spectrum of
      developmental symptoms found in WBS.
CI  - Copyright 1999 Academic Press.
FAU - Osborne, L R
AU  - Osborne LR
AD  - Department of Genetics and Genomic Biology, The Hospital for Sick Children, 555
      University Avenue, Toronto, Ontario, M5G 1X8, Canada. lucy@genet.sickkids.on.ca
FAU - Campbell, T
AU  - Campbell T
FAU - Daradich, A
AU  - Daradich A
FAU - Scherer, S W
AU  - Scherer SW
FAU - Tsui, L C
AU  - Tsui LC
LA  - eng
SI  - GENBANK/AF104923
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (RNA, Messenger)
RN  - 0 (Transcription Factors)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Amino Acid Sequence
MH  - Blotting, Northern
MH  - Chromosomes, Human, Pair 7/genetics
MH  - DNA/chemistry/genetics
MH  - Exons
MH  - Gene Deletion
MH  - Genes/genetics
MH  - Humans
MH  - Introns
MH  - Molecular Sequence Data
MH  - RNA, Messenger/genetics/metabolism
MH  - Tissue Distribution
MH  - Transcription Factors/*genetics
MH  - Williams Syndrome/*genetics
EDAT- 1999/04/13 00:00
MHDA- 1999/04/13 00:01
CRDT- 1999/04/13 00:00
PHST- 1999/04/13 00:00 [pubmed]
PHST- 1999/04/13 00:01 [medline]
PHST- 1999/04/13 00:00 [entrez]
AID - S0888-7543(99)95784-1 [pii]
AID - 10.1006/geno.1999.5784 [doi]
PST - ppublish
SO  - Genomics. 1999 Apr 15;57(2):279-84. doi: 10.1006/geno.1999.5784.