title: Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1.
abstract: XPMC2 is a Xenopus gene identified on the basis of its ability to correct a mitotic defect in fission yeast. Here we report the identification of cDNA clones for human XPMC2H, its mapping to the tuberous sclerosis gene TSC1 region on 9q34, determination of genomic structure, and identification of several coding region polymorphisms. The predicted protein has strong sequence similarity to the Xenopus gene. Through SSCP and heteroduplex analysis of genomic DNA, we found two intragenic polymorphisms but no evidence for significant mutations in patients with tuberous sclerosis in this gene.
authors.affiliation: Experimental Medicine Division, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA. kwiatkowski@calvin.bwh.harvard.edu
authors.forename: J
authors.initials: J
authors.lastname: Kwiatkowska
authors.forename: R
authors.initials: R
authors.lastname: Slomski
authors.forename: S
authors.initials: S
authors.lastname: Jozwiak
authors.forename: M P
authors.initials: MP
authors.lastname: Short
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000302:isolation & purification*; D005091:Exons; D006801:Humans; D007438:Introns; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000737:chemistry* / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins; D029867:Xenopus Proteins
chemical_list: D018076:DNA, Complementary; D011506:Proteins; C000624650:TSC1 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins; C088622:XPMC1 protein, Xenopus; D029867:Xenopus Proteins