RGD Reference Report - Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. - Rat Genome Database

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Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23.

Authors: Martindale, DW  Wilson, MD  Wang, D  Burke, RD  Chen, X  Duronio, V  Koop, BF 
Citation: Martindale DW, etal., Mamm Genome 2000 Oct;11(10):890-8.
RGD ID: 1549872
Pubmed: PMID:11003705   (View Abstract at PubMed)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
LAT2HumanWilliams-Beuren syndrome  IAGP  RGD 
Lat2RatWilliams-Beuren syndrome  ISOLAT2 (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Lat2  (linker for activation of T cells family, member 2)

Genes (Homo sapiens)
LAT2  (linker for activation of T cells family member 2)

Objects referenced in this article
Gene Eif4h eukaryotic translation initiation factor 4H Mus musculus
Gene Limk1 LIM domain kinase 1 Mus musculus
Gene Rfc2 replication factor C (activator 1) 2 Mus musculus
Gene Eif4h eukaryotic translation initiation factor 4H Rattus norvegicus

Additional Information