Genomic structure of the human OB receptor and identification of two novel intronic microsatellites

被引:30
作者
Chung, WK
PowerKehoe, L
Chua, M
Lee, R
Leibel, RL
机构
[1] ROCKEFELLER UNIV,HUMAN BEHAV & METAB LAB,NEW YORK,NY 10021
[2] ROCKEFELLER UNIV,DNA SEQUENCING CORE,NEW YORK,NY 10021
来源
GENOME RESEARCH | 1996年 / 6卷 / 12期
关键词
D O I
10.1101/gr.6.12.1192
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Identification of the OB (leptin) receptor (OBR) as the gene that is defective in diabetes (Lepr(db)) mice and fatty (lepr(fa)) rats provides an important candidate gene for the study of the genetics of human obesity. We defined the boundaries of the 18 coding exons for the long form of OBR, and sequenced the immediately adjacent intronic regions. These sequences can be used to generate reagents for genetic analysis (e.g., direct sequencing, single-stranded conformational polymorphism analysis, etc.) of the possible role of OBR in the regulation of adiposity in humans. In addition, we have identified two highly polymorphic intronic microsatellites that can be scored with the polymerase chain reaction.
引用
收藏
页码:1192 / 1199
页数:8
相关论文
共 18 条
  • [1] GENETIC-ANALYSIS OF ANTHROPOMETRIC MEASURES IN 11-YEAR-OLD TWINS - THE MEDICAL-COLLEGE-OF-VIRGINIA TWIN STUDY
    BODURTHA, JN
    MOSTELLER, M
    HEWITT, JK
    NANCE, WE
    EAVES, LJ
    MOSKOWITZ, WB
    KATZ, S
    SCHIEKEN, RM
    [J]. PEDIATRIC RESEARCH, 1990, 28 (01) : 1 - 4
  • [2] BOUCHARD C, 1995, DAHL WORKSH REG BOD
  • [3] RECOMBINANT MOUSE OB PROTEIN - EVIDENCE FOR A PERIPHERAL SIGNAL LINKING ADIPOSITY AND CENTRAL NEURAL NETWORKS
    CAMPFIELD, LA
    SMITH, FJ
    GUISEZ, Y
    DEVOS, R
    BURN, P
    [J]. SCIENCE, 1995, 269 (5223) : 546 - 549
  • [4] Evidence that the diabetes gene encodes the leptin receptor: Identification of a mutation in the leptin receptor gene in db/db mice
    Chen, H
    Charlat, O
    Tartaglia, LA
    Woolf, EA
    Weng, X
    Ellis, SJ
    Lakey, ND
    Culpepper, J
    Moore, KJ
    Breitbart, RE
    Duyk, GM
    Tepper, RI
    Morgenstern, JP
    [J]. CELL, 1996, 84 (03) : 491 - 495
  • [5] Phenotypes of mouse diabetes and rat fatty due to mutations in the OB (leptin) receptor
    Chua, SC
    Chung, WK
    WuPeng, XS
    Zhang, YY
    Liu, SM
    Tartaglia, L
    Leibel, RL
    [J]. SCIENCE, 1996, 271 (5251) : 994 - 996
  • [6] Phenotype of fatty due to Gln269Pro mutation in the leptin receptor (Lepr)
    Chua, SC
    White, DW
    WuPeng, XS
    Liu, SM
    Okada, N
    Kershaw, EE
    Chung, WK
    PowerKehoe, L
    Chua, M
    Tartaglia, LA
    Leibel, RL
    [J]. DIABETES, 1996, 45 (08) : 1141 - 1143
  • [7] Mapping of the OB receptor to 1p in a region of nonconserved gene order from mouse and rat to human
    Chung, WK
    PowerKehoe, L
    Chua, M
    Leibel, RL
    [J]. GENOME RESEARCH, 1996, 6 (05) : 431 - 438
  • [8] Novel B219/OB receptor isoforms: Possible role of leptin in hematopoiesis and reproduction
    Cioffi, JA
    Shafer, AW
    Zupancic, TJ
    SmithGbur, J
    Mikhail, A
    Platika, D
    Snodgrass, HR
    [J]. NATURE MEDICINE, 1996, 2 (05) : 585 - 589
  • [9] Defective STAT signaling by the leptin receptor in diabetic mice
    Ghilardi, N
    Ziegler, S
    Wiestner, A
    Stoffel, R
    Heim, MH
    Skoda, RC
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (13) : 6231 - 6235
  • [10] Phenotype-linked amino acid alteration in leptin receptor cDNA from Zucker fatty (fa/fa) rat
    Iida, M
    Murakami, T
    Ishida, K
    Mizuno, A
    Kuwajima, M
    Shima, K
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1996, 222 (01) : 19 - 26