title: Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23.
abstract: 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.
authors.affiliation: Department of Biology, Centre for Environmental Health, P.O. Box 3020, University of Victoria, Victoria, British Columbia, V8W 3N5 Canada.
authors.forename: D W
authors.initials: DW
authors.lastname: Martindale
authors.forename: M D
authors.initials: MD
authors.lastname: Wilson
authors.forename: D
authors.initials: D
authors.lastname: Wang
authors.forename: R D
authors.initials: RD
authors.lastname: Burke
authors.forename: X
authors.initials: X
authors.lastname: Chen
authors.forename: V
authors.initials: V
authors.lastname: Duronio
authors.forename: B F
authors.initials: BF
authors.lastname: Koop
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D054461:Lim Kinases; D051379:Mice; D008807:Mice, Inbred BALB C; D008969:Molecular Sequence Data; D011494:Protein Kinases; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D051818:Replication Protein C; D029701:Saccharomyces cerevisiae Proteins; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors; D018980:Williams Syndrome / Q000235:genetics*; D000092468:Bromodomain Containing Proteins
chemical_list: D004268:DNA-Binding Proteins; D054461:Lim Kinases; D011494:Protein Kinases; D017346:Protein Serine-Threonine Kinases; D051818:Replication Protein C; D029701:Saccharomyces cerevisiae Proteins; D014157:Transcription Factors; C116750:BAZ1B protein, human; D000092468:Bromodomain Containing Proteins; C485505:Baz1b protein, mouse; C087491:RFC2 protein, S cerevisiae; C497561:RFC2 protein, human; C515892:LIMK1 protein, human; C515893:Limk1 protein, mouse