PMID- 11003705
OWN - NLM
STAT- MEDLINE
DCOM- 20001214
LR  - 20211203
IS  - 0938-8990 (Print)
IS  - 0938-8990 (Linking)
VI  - 11
IP  - 10
DP  - 2000 Oct
TI  - Comparative genomic sequence analysis of the Williams syndrome region 
      (LIMK1-RFC2) of human chromosome 7q11.23.
PG  - 890-8
AB  - Williams syndrome (WS) is a complex neurodevelopmental disorder arising from a 
      microdeletion at Chr band 7q11.23, which results in a hemizygous condition for a 
      number of genes. Within this region we have completely characterized 200 kb 
      containing the genes LIMK1, WBSCR1, and RFC2. Evidence was also found for WBSCR5 
      in this region, but not the previously proposed genes WSCR2 and WSCR6. The 
      syntenic region in mouse was also sequenced (115 kb) and characterized, and a 
      comparative sequence analysis with a percent identity plot (PIP) easily allowed 
      us to identify coding exons. This genomic region is GC rich (50.1% human, 49.9% 
      mouse) and contains an unusually high abundance of repetitive elements consisting 
      primarily of Alu (45.4%, one of the highest levels identified to date) in human, 
      and the B family of SINES (30.6% of the total sequence) in mouse. WBSCR1 
      corresponds to eukaryotic initiation factor 4H, identified in rabbit, and is 
      herein found to be constitutively expressed in both human and mouse, with two RNA 
      and protein products formed (exon 5 is alternatively spliced). The transcription 
      pattern of WBSCR5 was also examined and discussed along with its putative amino 
      acid sequence.
FAU - Martindale, D W
AU  - Martindale DW
AD  - Department of Biology, Centre for Environmental Health, P.O. Box 3020, University 
      of Victoria, Victoria, British Columbia, V8W 3N5 Canada.
FAU - Wilson, M D
AU  - Wilson MD
FAU - Wang, D
AU  - Wang D
FAU - Burke, R D
AU  - Burke RD
FAU - Chen, X
AU  - Chen X
FAU - Duronio, V
AU  - Duronio V
FAU - Koop, B F
AU  - Koop BF
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Mamm Genome
JT  - Mammalian genome : official journal of the International Mammalian Genome Society
JID - 9100916
RN  - 0 (BAZ1B protein, human)
RN  - 0 (Baz1b protein, mouse)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (RFC2 protein, S cerevisiae)
RN  - 0 (RFC2 protein, human)
RN  - 0 (Saccharomyces cerevisiae Proteins)
RN  - 0 (Transcription Factors)
RN  - EC 2.7.- (Protein Kinases)
RN  - EC 2.7.11.1 (LIMK1 protein, human)
RN  - EC 2.7.11.1 (Lim Kinases)
RN  - EC 2.7.11.1 (Limk1 protein, mouse)
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
RN  - EC 3.6.4.- (Replication Protein C)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 7
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Genome, Human
MH  - Humans
MH  - Lim Kinases
MH  - Mice
MH  - Mice, Inbred BALB C
MH  - Molecular Sequence Data
MH  - Protein Kinases
MH  - Protein Serine-Threonine Kinases/*genetics
MH  - Replication Protein C
MH  - *Saccharomyces cerevisiae Proteins
MH  - Sequence Homology, Amino Acid
MH  - Transcription Factors
MH  - Williams Syndrome/*genetics
EDAT- 2000/09/26 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/09/26 11:00
PHST- 2000/09/26 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/09/26 11:00 [entrez]
AID - 10.1007/s003350010166 [pii]
AID - 10.1007/s003350010166 [doi]
PST - ppublish
SO  - Mamm Genome. 2000 Oct;11(10):890-8. doi: 10.1007/s003350010166.