Gene Mapping, Cloning and Sequencing

The pericentromeric region of human chromosome 11: evidence for a chromosome-specific duplication
J. Zhang^a, S. Qin^a, S.N.J. Sait^b, L.L. Haley^a, W.M. Henry^a, M.J. Higgins^a, N.J. Nowak^a, T.B. Shows^a, D.S. Gerhard^c

Departments of
^aCancer Genetics and
^bCytogenetics, Roswell Park Cancer Institute, Buffalo NY;
^cDepartment of Genetics, Washington University School of Medicine, St. Louis MO (USA)

Address of Corresponding Author

Cytogenet Cell Genet 2001;94:137-141 (DOI: 10.1159/000048805)

  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.   

Copyright © 2002 S. Karger AG, Basel

  Author Contacts

Request reprints from Dr. Thomas B. Shows, Department of Cancer Genetics,Roswell Park Cancer Institute, Buffalo, NY 14263 (USA);telephone: 716-845-3108; fax: 716-845-8449;email: Thomas.Shows@RoswellPark.org
Current address of S.Q.: The Institute for Systems Biology, 4225 Roosevelt WayN.E., Seattle WA 98105 (USA).
Appendices can be found at:www.genetics.wustl.edu/gerhard/duplication/

  Article Information

Supported by NIH grants awarded to T.B.S. (HG00359 and HG00333).

Received: Received 8 August 2001;
manuscript accepted 8 October 2001.
Number of Print Pages : 5
Number of Figures : 2, Number of Tables : 1, Number of References : 40