A YEAST ARTIFICIAL CHROMOSOME CONTIG OF THE CRITICAL REGION FOR CRI-DU-CHAT SYNDROME

被引:27
作者
GOODART, SA
SIMMONS, AD
GRADY, D
ROJAS, K
MOYZIS, RK
LOVETT, M
OVERHAUSER, J
机构
[1] THOMAS JEFFERSON UNIV, DEPT BIOCHEM & MOLEC BIOL, PHILADELPHIA, PA 19107 USA
[2] UNIV TEXAS, SW MED CTR, MCDERMOTT CTR, DALLAS, TX 75235 USA
[3] LOS ALAMOS NATL LAB, CTR HUMAN GENOME STUDIES, LOS ALAMOS, NM 87545 USA
关键词
D O I
10.1006/geno.1994.1582
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hypotonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the syndrome. Recently, a correlation between clinical features and the extent of the chromosome 5 deletions has identified two regions of the short arm that appear to be critical for the abnormal development manifested in this syndrome. Loss of a small region in 5p15.2 correlates with all of the clinical features of cri-du-chat with the exception of the cat-like cry, which maps to 5p15.3. Here we report the construction of a YAC contig that spans the chromosomal region in 5p15.2 that plays a major role in the etiology of the cri-duchat syndrome. YACs that span the 2-Mb cri-du-chat critical region have been identified and characterized. This YAC contig lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in the clinical features associated with the cri-du-chat syndrome. It also provides a new diagnostic tool for cri-du-chat in the shape of a YAC clone that may span the entire critical region. (C) 1994 Academic Press, Inc.
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页码:63 / 68
页数:6
相关论文
共 24 条
[1]   CONSTRUCTION AND CHARACTERIZATION OF A YEAST ARTIFICIAL CHROMOSOME LIBRARY CONTAINING 7 HAPLOID HUMAN GENOME EQUIVALENTS [J].
ALBERTSEN, HM ;
ABDERRAHIM, H ;
CANN, HM ;
DAUSSET, J ;
LEPASLIER, D ;
COHEN, D .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (11) :4256-4260
[2]   A 2-DIMENSIONAL YAC POOLING STRATEGY FOR LIBRARY SCREENING VIA STS AND ALU-PCR METHODS [J].
AMEMIYA, CT ;
ALEGRIAHARTMAN, MJ ;
ASLANIDIS, C ;
CHEN, C ;
NIKOLIC, J ;
GINGRICH, JC ;
DEJONG, PJ .
NUCLEIC ACIDS RESEARCH, 1992, 20 (10) :2559-2563
[3]   ISOLATION OF SINGLE-COPY HUMAN GENES FROM A LIBRARY OF YEAST ARTIFICIAL CHROMOSOME CLONES [J].
BROWNSTEIN, BH ;
SILVERMAN, GA ;
LITTLE, RD ;
BURKE, DT ;
KORSMEYER, SJ ;
SCHLESSINGER, D ;
OLSON, MV .
SCIENCE, 1989, 244 (4910) :1348-1351
[4]  
CARLIN ME, 1990, 8TH P C INT ASS SCI
[5]   A 1ST-GENERATION PHYSICAL MAP OF THE HUMAN GENOME [J].
COHEN, D ;
CHUMAKOV, I ;
WEISSENBACH, J .
NATURE, 1993, 366 (6456) :698-701
[6]  
FEINBERG AP, 1984, ANAL BIOCHEM, V137, P266
[7]   A CONTIG OF NON-CHIMERIC YACS CONTAINING THE SPINAL MUSCULAR-ATROPHY GENE IN 5Q13 [J].
FRANCIS, MJ ;
MORRISON, KE ;
CAMPBELL, L ;
GREWAL, PK ;
CHRISTODOULOU, Z ;
DANIELS, RJ ;
MONACO, AP ;
FRISCHAUF, AM ;
MCPHERSON, J ;
WASMUTH, J ;
DAVIES, KE .
HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1161-1167
[8]  
Gosden J R, 1990, Methods Mol Biol, V5, P487, DOI 10.1385/0-89603-150-0:487
[9]   SYSTEMATIC GENERATION OF SEQUENCE-TAGGED SITES FOR PHYSICAL MAPPING OF HUMAN-CHROMOSOMES - APPLICATION TO THE MAPPING OF HUMAN CHROMOSOME-7 USING YEAST ARTIFICIAL CHROMOSOMES [J].
GREEN, ED ;
MOHR, RM ;
IDOL, JR ;
JONES, M ;
BUCKINGHAM, JM ;
DEAVEN, LL ;
MOYZIS, RK ;
OLSON, MV .
GENOMICS, 1991, 11 (03) :548-564
[10]   SOMATIC-CELL HYBRID DELETION MAP OF HUMAN CHROMOSOME-18 [J].
KLINE, AD ;
ROJAS, K ;
MEWAR, R ;
MOSHINSKY, D ;
OVERHAUSER, J .
GENOMICS, 1992, 13 (01) :1-6