Human Molecular Genetics, Vol 7, 325-334, Copyright © 1998 by Oxford University Press
LA Perez Jurado, YK Wang, R Peoples, A Coloma, J Cruces and U Francke
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with
multisystemic manifestations caused by heterozygosity for a partial
deletion of chromosome band 7q11.23. The breakpoints cluster within regions
located approximately 1 cM either side of the elastin (ELN) locus. We have
characterized a duplicated region near the common deletion breakpoints,
which includes a transcribed gene. The centromeric (C) and telomeric (T)
copies are almost identical in the duplicated 3[prime] portions but diverge
at their 5[prime]-ends. C- specific 4.3 kb mRNA and T-specific 5.4 kb mRNA
are widely expressed in embryonic and adult tissues. The telomeric gene
gives rise to several alternatively spliced forms and is deleted in all WBS
individuals who have documented ELN deletions. Database searches revealed
that this gene encodes BAP-135, a protein phosphorylated by Bruton's
tyrosine kinase in B cells, as well as the multifunctional transcription
factor TFII-I, hence the gene name GTF2I. The centromeric gene is not
deleted in WBS and appears to be a partially truncated expressed pseudogene
with no protein product (gene name GTF2IP1). Both loci map to different
genomic clone contigs that also contain other deleted and non-deleted loci.
A probe from the shared region recognizes a >3 Mb Not I junction
fragment that is unique to individuals with the WBS deletion. Therefore,
the duplicated region containing GTF2I and GTF2IP1 respectively is located
close to the deletion breakpoints and may predispose to unequal meiotic
recombination between chromosome 7 homologs and/or to intrachromosomal
rearrangements. Hemizygosity for GTF2I may also contribute to the WBS
phenotype.
ARTICLES
A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
Unidad de Gen-etica, Hospital Ni-no Jes-us, Madred, Spain. Stanford University Medical Center,
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