title: The pericentromeric region of human chromosome 11: evidence for a chromosome-specific duplication.
abstract: We have identified a chromosome duplication in the pericentromeric region of human chromosome 11 located in 11p11 and 11q14. A detailed physical map of each duplicated region was generated to describe the nature of the duplication, the involvement at the centromere and to resolve the correct maps. All clones were evaluated to ensure they were representative of their genetic origin. The order of clones, based on their marker content, as well as the distance covered was determined by SEGMAP. Each duplication encompasses more than 1 Mb of DNA and appears to be chromosome 11 specific. Ten STS markers were mapped within each duplication. Comparative sequence analysis along the duplication identified 35 nucleotide changes in 2,036 bp between the two copies, suggesting the duplication occurred over 14 million years ago. A suggested organization of the pericentromeric region, including the duplications and alpha-related repetitive sequences, is presented.
authors.affiliation: Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.forename: S
authors.initials: S
authors.lastname: Qin
authors.forename: S N
authors.initials: SN
authors.lastname: Sait
authors.forename: L L
authors.initials: LL
authors.lastname: Haley
authors.forename: W M
authors.initials: WM
authors.lastname: Henry
authors.forename: M J
authors.initials: MJ
authors.lastname: Higgins
authors.forename: N J
authors.initials: NJ
authors.lastname: Nowak
authors.forename: T B
authors.initials: TB
authors.lastname: Shows
authors.forename: D S
authors.initials: DS
authors.lastname: Gerhard
mesh_terms: D002503:Centromere / Q000235:genetics*; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005784:Gene Amplification / Q000235:genetics*; D020440:Gene Duplication; D020131:Genes, Duplicate / Q000235:genetics; D006801:Humans; D006822:Hybrid Cells / Q000378:metabolism; D017404:In Situ Hybridization, Fluorescence; D020407:Internet; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D016324:Sequence Tagged Sites; D012984:Software; D013379:Substrate Specificity