Genomic organization of the ATM gene

被引:139
作者
Uziel, T
Savitsky, K
Platzer, M
Ziv, Y
Helbitz, T
Nehls, M
Boehm, T
Rosenthal, A
Shiloh, Y
Rotman, G
机构
[1] TEL AVIV UNIV, SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 TEL AVIV, ISRAEL
[2] INST MOL BIOTECHNOL, DEPT GENOME ANAL, D-07745 JENA, GERMANY
[3] GERMAN CANC RES CTR, D-69120 HEIDELBERG, GERMANY
关键词
D O I
10.1006/geno.1996.0201
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
The ATM gene was recently identified and found to be responsible for the human genetic disorder ataxia-telangiectasia. The major ATM transcript is 13 kb. Using long-distance PCR, we determined the genomic structure of this gene and identified all of its exon-intron boundaries. The ATM. gene spans approximately 150 kb of genomic DNA and consists of 66 exons. The initiation codon falls within exon 4. The last exon is 3.8 kb and contains the stop codon and a 3'-untranslated region of about 3600 nucleotides. (C) 1996 Academic Press, Inc.
引用
收藏
页码:317 / 320
页数:4
相关论文
共 19 条
  • [1] STRUCTURE AND EXPRESSION OF THE HUNTINGTONS-DISEASE GENE - EVIDENCE AGAINST SIMPLE INACTIVATION DUE TO AN EXPANDED CAG REPEAT
    AMBROSE, CM
    DUYAO, MP
    BARNES, G
    BATES, GP
    LIN, CS
    SRINIDHI, J
    BAXENDALE, S
    HUMMERICH, H
    LEHRACH, H
    ALTHERR, M
    WASMUTH, J
    BUCKLER, A
    CHURCH, D
    HOUSMAN, D
    BERKS, M
    MICKLEM, G
    DURBIN, R
    DODGE, A
    READ, A
    GUSELLA, J
    MACDONALD, ME
    [J]. SOMATIC CELL AND MOLECULAR GENETICS, 1994, 20 (01) : 27 - 38
  • [2] PCR AMPLIFICATION OF UP TO 35-KB DNA WITH HIGH-FIDELITY AND HIGH-YIELD FROM LAMBDA-BACTERIOPHAGE TEMPLATES
    BARNES, WM
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (06) : 2216 - 2220
  • [3] EFFECTIVE AMPLIFICATION OF LONG TARGETS FROM CLONED INSERTS AND HUMAN GENOMIC DNA
    CHENG, S
    FOCKLER, C
    BARNES, WM
    HIGUCHI, R
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (12) : 5695 - 5699
  • [4] ISOLATION OF GENES FROM COMPLEX SOURCES OF MAMMALIAN GENOMIC DNA USING EXON AMPLIFICATION
    CHURCH, DM
    STOTLER, CJ
    RUTTER, JL
    MURRELL, JR
    TROFATTER, JA
    BUCKLER, AJ
    [J]. NATURE GENETICS, 1994, 6 (01) : 98 - 105
  • [5] CANCER RISKS IN A-T HETEROZYGOTES
    EASTON, DF
    [J]. INTERNATIONAL JOURNAL OF RADIATION BIOLOGY, 1994, 66 (06) : S177 - S182
  • [6] FOORD OS, 1994, PCR METH APPL, V3, pS149
  • [7] ATAXIA-TELANGIECTASIA - AN INTERDISCIPLINARY APPROACH TO PATHOGENESIS
    GATTI, RA
    BODER, E
    VINTERS, HV
    SPARKES, RS
    NORMAN, A
    LANGE, K
    [J]. MEDICINE, 1991, 70 (02) : 99 - 117
  • [8] THE NATURE OF ATAXIA-TELANGIECTASIA - PROBLEMS AND PERSPECTIVES
    HARNDEN, DG
    [J]. INTERNATIONAL JOURNAL OF RADIATION BIOLOGY, 1994, 66 (06) : S13 - S19
  • [9] JACKSON IJ, 1991, NUCLEIC ACIDS RES, V19, P3795
  • [10] THE SEQUENCE COMPLEXITY OF EXONS TRAPPED FROM THE MOUSE GENOME
    NEHLS, M
    PFEIFER, D
    MICKLEM, G
    SCHMOOR, C
    BOEHM, T
    [J]. CURRENT BIOLOGY, 1994, 4 (11) : 983 - 989