title: Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region.
abstract: 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 including the GLI3 gene. In this contig the gene itself spans at least 200-250 kb. A CpG island is located in the vicinity of the 5' region of the known GLI3 cDNA, implying a potential promoter region.
authors.affiliation: Institut für Humangenetik, Marburg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Vortkamp
authors.forename: M
authors.initials: M
authors.lastname: Gessler
authors.forename: D
authors.initials: D
authors.lastname: Le Paslier
authors.forename: R
authors.initials: R
authors.lastname: Elaswarapu
authors.forename: S
authors.initials: S
authors.lastname: Smith
authors.forename: K H
authors.initials: KH
authors.lastname: Grzeschik
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002897:Chromosomes, Human, Pair 7; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D006801:Humans; D051741:Kruppel-Like Transcription Factors; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D017689:Polydactyly / Q000235:genetics*; D011401:Promoter Regions, Genetic; D012097:Repressor Proteins; D012886:Skull / Q000002:abnormalities*; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors; D029867:Xenopus Proteins; D000074290:Zinc Finger Protein Gli3; D016335:Zinc Fingers / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C108003:GLI3 protein, Xenopus; C065683:GLI3 protein, human; C465571:Gli3 protein, mouse; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D012097:Repressor Proteins; D014157:Transcription Factors; D029867:Xenopus Proteins; D000074290:Zinc Finger Protein Gli3