A YAC contig spanning the ataxia-telangiectasia locus (groups A and C) at 11q22-q23

Galit Rotman*, Kinneret Savitsky, Yael Ziv, Charlotte G. Cole, Michael J. Higgins, Irit Bar-Am, Ian Dunham, Anat Bar-Shira, Lina Vanagaite, Shizhen Qin, Jialu Zhang, Norma J. Nowak, Settara C. Chandrasekharappa, Hans Lehrach, Lydia Avivi, Thomas B. Shows, Francis S. Collins, David R. Bentley, Yosef Shiloh

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Ataxia-telangiectasia (A-T) is an autosomal recessive disease involving cerebellar degeneration, immunodeficiency, cancer predisposition, chromosomal instability and radiosensitivity. A-T is heterogeneous, and the majority of A-T cases are associated with two complementation groups, A and C. The ATA and ATC loci are closely linked at chromosome 11q22-q23. Recombination mapping and linkage disequilibrium analysis have confined both loci between the markers D11S1817 and D11S927, spaced approximately 3.5 Mb apart. Isolation in yeast artificial chromosomes of the genomic segment defined by these loci is essential to identify the gene or genes containing the ATA and ATC mutations. A YAC contig spanning 4.5 Mb, which includes the D11S1817-D11S927 interval, was constructed using two whole genome libraries (ICRF and St. Louis), and a chromosome 11-specific library. Construction of this contig was expedited by prior generation of a region-specific ICRF sublibrary using Alu-PCR products derived from a radiation hybrid. The contig was expanded further by screening the libraries with Alu-PCR products derived from YAC clones and with STSs from YAC ends. YAC clones were aligned by fingerprinting with moderately repetitive probes.

Original languageEnglish
Pages (from-to)234-242
Number of pages9
JournalGenomics
Volume24
Issue number2
DOIs
StatePublished - 15 Nov 1994

Funding

FundersFunder number
National Human Genome Research InstituteR01HG000359

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