Isolation and localization of DNA segments from specific human chromosomes
James F. Gusella,Cheryl Keys,Aviva Varsanyi-Breiner,Fa-Ten Kao,Carol Adaire Jones,Theodore T. Puck,David E. Housman +6 more
TLDR
A library of genomic DNA segments has been constructed from the DNA of a somatic cell hybrid carrying a portion of human chromosome 11 on a Chinese hamster ovary cell background, and using a nucleic acid hybridization technique that distinguishes human and Chinese hamsters interspersed, repetitive DNA, this approach promises implications for human genetics generally, for the human genetic diseases, and possibly for understanding of gene regulation in normal and abnormal differentiation.Abstract:
Recombinant DNA techniques have been combined with somatic cell genetic methods to identify, isolate, and amplify fragments of human DNA localized at specific regions of human chromosome 11 selected as a model system. A library of genomic DNA segments has been constructed, in λ Charon 4A bacteriophage, from the DNA of a somatic cell hybrid carrying a portion of human chromosome 11 on a Chinese hamster ovary cell background. Using a nucleic acid hybridization technique that distinguishes human and Chinese hamster interspersed, repetitive DNA, we have been able to distinguish recombinant phages carrying DNA segments of human origin from recombinant phages carrying DNA segments of Chinese hamster origin. We have isolated 50 human DNA segments thus far and have characterized 5 in detail. For each DNA segment characterized, a subsegment that carries no repetitive human DNA sequences has been identified. These segments have been used as hybridization probes in experiments that localize the DNA fragment on the chromosome. In each case an unequivocal chromosomal localization has been obtained with reference to a panel of hybrid cell clones each of which carries a deletion of a portion of the short arm of chromosome 11. At least one DNA segment has been identified which maps to each of the four regions on the short arm defined by the panel of hybrid cell clones used. The approaches described here appear to be general. They can be extended to produce a fine structure map of human chromosome 11 and other human chromosomes. This approach promises implications for human genetics generally, for the human genetic diseases, and possibly for understanding of gene regulation in normal and abnormal differentiation.read more
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Journal ArticleDOI
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.
TL;DR: The use of fluorescence in situ hybridization for chromosome classification and detection of chromosome aberrations is described and chromosomes in human-hamster hybrid cell lines were intensely and uniformly stained in metaphase spreads and interphase nuclei when human genomic DNA was used as a probe.
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A polymorphic DNA marker genetically linked to Huntington's disease
James F. Gusella,Nancy S. Wexler,P. Michael Conneally,S. L. Naylor,Mary Anne Anderson,Rudolph E. Tanzi,Paul C. Watkins,Kathleen Ottina,Margaret R. Wallace,Alan Y. Sakaguchi,Anne B. Young,Ira Shoulson,Ernesto Bonilla,Joseph B. Martin +13 more
TL;DR: The chromosomal localization of the Huntington's disease gene is the first step in using recombinant DNA technology to identify the primary genetic defect in this disorder.
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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma
Webster K. Cavenee,Webster K. Cavenee,Thaddeus P. Dryja,Robert A. Phillips,William F Benedict,Roseline Godbout,Brenda L. Gallie,A L Murphree,Louise C Strong,R. L. White +9 more
TL;DR: A comparison of constitutional and tumour genotypes from several cases indicates that tumorigenesis may result from the development of homozygosity for the mutant allele at the Rb-1 locus.
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Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus.
Katherine M. Call,Thomas M Glaser,Caryn Y. Ito,Alan Buckler,Jerry Pelletier,Daniel A. Haber,Elise A. Rose,Astrid Kral,Astrid Kral,Herman Yeger,William H. Lewis,Carol Jones,David E. Housman +12 more
TL;DR: The genetic localization of this gene, its tissue-specific expression, and the function predicted from its sequence lead us to suggest that it represents the 11p13 Wilms' tumor gene.
Journal ArticleDOI
High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones.
Peter Lichter,Chieh-Ju Chang Tang,Katherine M. Call,Gary G. Hermanson,Glen A. Evans,David E. Housman,David C. Ward +6 more
TL;DR: The results demonstrate the feasibility of rapidly producing high-resolution maps of human chromosomes by in situ hybridization and show that by hybridizing three or more cosmids simultaneously, gene order on the chromosome could be established unequivocally.
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