The pericentromeric region of human chromosome 11: evidence for a chromosome-specific duplication

• Published in: Cytogenetic and genome research Vol. 94; no. 3-4; pp. 137 - 141
• Main Authors: Zhang, J., Qin, S., Sait, S.N.J., Haley, L.L., Henry, W.M., Higgins, M.J., Nowak, N.J., Shows, T.B., Gerhard, D.S.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland Karger 01.01.2001; S. Karger AG
• Subjects: Biological and medical sciences; Centromere - genetics; chromosome 11; Chromosomes, Artificial, Yeast - genetics; Chromosomes, Human, Pair 11 - genetics; Classical genetics, quantitative genetics, hybrids; Fundamental and applied biological sciences. Psychology; Gene Amplification - genetics; Gene Duplication; Gene Mapping, Cloning and Sequencing; Genes, Duplicate - genetics; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Hybrid Cells - metabolism; In Situ Hybridization, Fluorescence; Internet; Molecular Sequence Data; Physical Chromosome Mapping; Sequence Tagged Sites; Software; Substrate Specificity; Chromosomal aberration; Genetic mapping; Human; Genome organization; Nucleotide sequence; Abnormal chromosome; Chromosome duplication; Chromosome C11; Physical map
• ISSN: 1424-8581; 0301-0171; 1424-859X
• DOI: 10.1159/000048805

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.