TY - JOUR
T1 - A YAC contig spanning the ataxia-telangiectasia locus (groups A and C) at 11q22-q23
AU - Rotman, Galit
AU - Savitsky, Kinneret
AU - Ziv, Yael
AU - Cole, Charlotte G.
AU - Higgins, Michael J.
AU - Bar-Am, Irit
AU - Dunham, Ian
AU - Bar-Shira, Anat
AU - Vanagaite, Lina
AU - Qin, Shizhen
AU - Zhang, Jialu
AU - Nowak, Norma J.
AU - Chandrasekharappa, Settara C.
AU - Lehrach, Hans
AU - Avivi, Lydia
AU - Shows, Thomas B.
AU - Collins, Francis S.
AU - Bentley, David R.
AU - Shiloh, Yosef
PY - 1994/11/15
Y1 - 1994/11/15
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0028596601&partnerID=8YFLogxK
U2 - 10.1006/geno.1994.1611
DO - 10.1006/geno.1994.1611
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AN - SCOPUS:0028596601
SN - 0888-7543
VL - 24
SP - 234
EP - 242
JO - Genomics
JF - Genomics
IS - 2
ER -