A. Vortkamp et al., ISOLATION OF A YEAST ARTIFICIAL CHROMOSOME CONTIG SPANNING THE GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (GCPS) GENE REGION, Genomics, 22(3), 1994, pp. 563-568
Disruption of the zinc finger gene GLI3 has been shown to be the cause
of Greig cephalopolysyndactyly syndrome (GCPS), at least in some GCPS
translocation patients. To characterize this genomic region on human
chromosome 7p13, we have isolated a YAC contig of more than 1000 kb in
cluding the GLI3 gene. In this contig the gene itself spans at least 2
00-250 kb. A CpG island is located in the vicinity of the 5' region of
the known GLI3 cDNA, implying a potential promoter region. (C) Academ
ic Press, Inc.