title: Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12.
abstract: In order to permit detailed characterization of meningioma cases showing deletions within chromosomal band 22q12 and further systematically clone genes located within this region, we established a genomic YAC and cosmid contig which encompasses a region in excess of 1000 kb of 22q12. The YAC contig consists of 6 YAC clones arranged into 5 overlapping steps covering more than 1100 kb. Two corresponding cosmid contigs consisting of 40 steps of overlapping groups of cosmids encompasses 900-1000 kb. This set of genomic clones provides a detailed physical map of this part of chromosome 22 and constitutes a basis for the isolation and characterization of genes that may be located within this chromosomal region. Employing the exon-amplification method on two cosmids from the contig, we cloned a novel, anonymous gene, pK1.3, which potentially encodes a protein of 683 amino acids with a predicted molecular weight of of 78.5 kD. Its 2.7 kb mRNA is expressed ubiquitously. We estimated the genomic size of this gene to 100-150 kb, and it is located in the immediate centromeric vicinity of the neurofibromatosis 2 (NF2) tumor suppressor gene.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: Y G
authors.initials: YG
authors.lastname: Xie
authors.forename: F Y
authors.initials: FY
authors.lastname: Han
authors.forename: M
authors.initials: M
authors.lastname: Peyrard
authors.forename: M H
authors.initials: MH
authors.lastname: Ruttledge
authors.forename: I
authors.initials: I
authors.lastname: Fransson
authors.forename: P
authors.initials: P
authors.lastname: DeJong
authors.forename: J
authors.initials: J
authors.lastname: Collins
authors.forename: I
authors.initials: I
authors.lastname: Dunham
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: J P
authors.initials: JP
authors.lastname: Dumanski
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D003360:Cosmids; D018076:DNA, Complementary / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons; D017353:Gene Deletion; D016515:Genes, Neurofibromatosis 2; D016147:Genes, Tumor Suppressor; D006801:Humans; D008577:Meningeal Neoplasms / Q000235:genetics*; D008579:Meningioma / Q000235:genetics*; D008969:Molecular Sequence Data; D012512:Sarcoma, Ewing / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D004273:DNA, Neoplasm