Physical Map of the Region Surrounding the Ataxia-Telangiectasia Gene on Human Chromosome 11q22-23

N. S. Udar; S. Xu; J.-O. Bay; S. S. Dandekar; N. Patel; X. Chen; T. Y. Liang; N. Uhrhammer; I. Klisak; H. Shizuya; H. Yang; G. Samara; J. Nelissen; M. Sawicki; P. Concannon; R. A. Gatti

doi:10.1055/s-2007-973487

Neuropediatrics 1999; 30(4): 176-180
DOI: 10.1055/s-2007-973487

Original articles

Physical Map of the Region Surrounding the Ataxia-Telangiectasia Gene on Human Chromosome 11q22-23

N. S. Udar¹ , S. Xu² , J.-O. Bay⁶ , S. S. Dandekar² , N. Patel² , X. Chen² , T. Y. Liang² , N. Uhrhammer⁶ , I. Klisak² , H. Shizuya³ , H. Yang² , G. Samara⁴ , J. Nelissen⁵ , M. Sawicki⁴ , P. Concannon⁵ , R. A. Gatti²

¹Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, USA
²Department of Pathology, UCLA School of Medicine, Los Angeles, USA
³Division of Biology, California Institute of Technology, Pasadena, USA
⁴VA Medical Center - West Los Angeles, Los Angeles, USA
⁵Virginia Mason Research Center and the Department of Immunology, University of Washington, School of Medicine, Seattle, USA
⁶Laboratoire d'Oncologie Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France

Abstract

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Abstract

Ataxia telangiectasia (A-T) is an autosomal recessive disease affecting multiple systems, including the development of the cerebellum and thymus. This results in a progressive cerebellar ataxia with onset between 1-3 years, telangiectasia occurs within the subsequent 3-5 years. We localized the A-T gene by linkage analysis to chromosome 11q22-23, between the markers D11S384, and D11S535, and constructed a series of contigs using three BACs and twelve cosmids, spanning a region of ~ 400 kb. We developed a set of sequence-tagged site (STS) markers from the ends of the BACs and cosmids. The A-T gene was isolated from within this region. It is now possible to precisely orient specific BACs, cosmids, and STSs with respect to the exons of the A-T gene (ATM). We anticipate that this information will be useful for further studies of functional domains and regulatory elements within the ATM gene, as well as for other genes in this region. In addition, these clones can be used for FISH studies of deletions, translocations and for loss of heterozygosity in various tumors.

Key words

Ataxia - Telangiectasia - Physical map - Chromosome 11q22-23

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