Mouse palmitoyl protein thioesterase: Gene structure and expression of cDNA

被引:11
|
作者
Salonen, T
Hellsten, E
Horelli-Kuitunen, N
Peltonen, L
Jalanko, A [1 ]
机构
[1] Univ Helsinki, Natl Publ Hlth Inst, FIN-00300 Helsinki, Finland
[2] Univ Helsinki, Inst Biomed, Dept Human Mol Genet, FIN-00300 Helsinki, Finland
[3] Univ Helsinki, Cent Hosp, Meilahti Hosp, Mol Genet Lab, FIN-00290 Helsinki, Finland
来源
GENOME RESEARCH | 1998年 / 8卷 / 07期
关键词
D O I
10.1101/gr.8.7.724
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
Palmitoyl protein thioesterase (PPT) is the defective enzyme in infantile neuronal ceroid lipofuscinosis (INCL), which is a recessively inherited, progressive neurodegenerative disorder. We present here the cloning, chromosomal mapping, genomic structure, and the expression of the cDNA of mouse PPT. The mouse PPT gene spans >21 kb of genomic DNA and contains nine exons with a coding sequence of 918 bp. Fluorescence in situ hybridization to metaphase chromosomes localized the mouse PPT gene to the chromosome 4 conserved syntenic region with human chromosome 1p32 where the human PPT is located. PPT is expressed widely in a variety of mouse tissues. The mouse PPT cDNA is conserved highly with the human and rat PPT both at the nucleotide and amino acid sequence level. Transient expression of mouse PP7 in COS-1 cells yielded a 38/36-kD differentially glycosylated polypeptide that was also secreted into culture media. Immunofluorescence analysis of transiently transfected HeLa cells indicated lysosomal localization of mouse PPT. Based on the high conservation of the gene and polypeptide structure as well as similar processing and intracellular localization, the function of PPT in mouse and human are likely to be very similar.
引用
收藏
页码:724 / 730
页数:7
相关论文
共 50 条
  • [1] Expression of palmitoyl protein thioesterase in neurons
    Heinonen, O
    Kyttälä, A
    Lehmus, E
    Paunio, T
    Peltonen, L
    Jalanko, A
    MOLECULAR GENETICS AND METABOLISM, 2000, 69 (02) : 123 - 129
  • [2] Developmental expression of palmitoyl protein thioesterase in normal mice
    Isosomppi, J
    Heinonen, O
    Hiltunen, JO
    Greene, NDE
    Vesa, J
    Uusitalo, A
    Mitchison, HM
    Saarma, M
    Jalanko, A
    Peltonen, L
    DEVELOPMENTAL BRAIN RESEARCH, 1999, 118 (1-2): : 1 - 11
  • [3] MOLECULAR-CLONING AND EXPRESSION OF PALMITOYL-PROTEIN THIOESTERASE
    CAMP, LA
    VERKRUYSE, LA
    AFENDIS, SJ
    SLAUGHTER, CA
    HOFMANN, SL
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1994, 269 (37) : 23212 - 23219
  • [4] Expression of a Gossypium hirsutum cDNA encoding a FatB palmitoyl-acyl carrier protein thioesterase in Escherichia coli
    Huynh, TT
    Pirtle, RM
    Chapman, KD
    PLANT PHYSIOLOGY AND BIOCHEMISTRY, 2002, 40 (01) : 1 - 9
  • [5] Palmitoyl-protein thioesterase (PPT) expression in developing rat brain
    Suopanki, J
    Tyynelä, J
    Baumann, M
    Haltia, M
    JOURNAL OF NEUROCHEMISTRY, 1999, 73 : S173 - S173
  • [6] Palmitoyl-protein thioesterase gene expression in the developing mouse brain and retina: Implications for early loss of vision in infantile neuronal ceroid lipofuscinosis
    Zhang, ZJ
    Mandal, AK
    Wang, N
    Keck, CL
    Zimonjic, DB
    Popescu, NC
    Mukherjee, AB
    GENE, 1999, 231 (1-2) : 203 - 211
  • [7] Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity
    Soyombo, AA
    Hofmann, SL
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (43) : 27456 - 27463
  • [8] Primary structure of mouse and rat nephrin cDNA and structure and expression of the mouse gene
    Putaala, H
    Sainio, K
    Sariola, H
    Tryggvason, K
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2000, 11 (06): : 991 - 1001
  • [9] Lysosomal targeting of palmitoyl-protein thioesterase
    Verkruyse, LA
    Hofmann, SL
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (26) : 15831 - 15836
  • [10] Purification of Palmitoyl Protein Thioesterase and Acyl Protein Thioesterase for use in In Vitro Depalmitoylation Reactions
    Esoe, Dave-Preston
    Erickson, Jeffery A.
    Hamann, Michael J.
    FASEB JOURNAL, 2019, 33