Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3

被引:28
作者
Lee, RL
Johnson, KR
Lerner, TJ
机构
[1] MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT,CHARLESTOWN,MA 02129
[2] JACKSON LAB,MOUSE MUTANT RESOURCE CTR,BAR HARBOR,ME 04609
[3] HARVARD UNIV,SCH MED,DEPT NEUROL,BOSTON,MA 02114
关键词
D O I
10.1006/geno.1996.0410
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
We describe the isolation and chromosomal mapping of a mouse homolog of the Batten disease gene, CLN3, Like its human counterpart, the mouse cDNA contains an open reading frame of 1314 bp encoding a predicted protein product of 438 amino acids, The mouse and human coding regions are 82 and 85% identical at the nucleic acid and amino acid levels, respectively, The mouse gene maps to distal Chromosome 7, in a region containing genes whose homologs are on human chromosome 16p12, where CLN3 maps, Isolation of a mouse CLN3 homolog will facilitate the creation of a mouse model of Batten disease. (C) 1996 Academic Press, Inc.
引用
收藏
页码:617 / 619
页数:3
相关论文
共 50 条
  • [31] Tissue expression and subcellular localization of CLN3, the Batten disease protein
    Margraf, LR
    Boriack, RL
    Routheut, AAJ
    Cuppen, I
    Alhilali, L
    Bennett, CJ
    Bennett, MJ
    MOLECULAR GENETICS AND METABOLISM, 1999, 66 (04) : 283 - 289
  • [32] Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation
    Kuper, Willemijn F. E.
    Talsma, Herman E.
    van Schooneveld, Mary J.
    Pott, Jan Willem R.
    Huijgen, Barbara C. H.
    de Wit, Gerard C.
    van Hasselt, Peter M.
    van Genderen, Maria M.
    ACTA OPHTHALMOLOGICA, 2021, 99 (04) : 397 - 404
  • [33] BATTEN-DISEASE .2. GENOMIC ALTERATIONS IN CLN3
    TASCHNER, PEM
    MITCHISON, HM
    KREMMIDIOTIS, G
    ORAWE, A
    MUNROE, PB
    DEVOS, N
    BOUSTANY, RM
    LENSINK, I
    MEINCKE, LJ
    ANDERSON, JW
    DARIGO, KL
    JARVELA, IE
    BUCKLER, AJ
    GUSELLA, JF
    HAINES, JL
    GARDINER, RM
    SUTHERLAND, GR
    DOGGETT, NA
    CALLEN, DF
    MOLE, SE
    LERNER, TJ
    BREUNING, MH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1328 - 1328
  • [34] Biosynthesis and subcellular localization of the CLN3 protein defective in Batten disease
    Jarvela, IE
    Sainio, M
    Rantamäki, T
    Olkkonen, V
    Carpen, O
    Peltonen, L
    Jalanko, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A253 - A253
  • [35] The Batten disease gene CLN3 confers resistance to endoplasmic reticulum stress induced by tunicamycin
    Wu, Dan
    Liu, Jing
    Wu, Baiyan
    Tu, Bo
    Zhu, Weiguo
    Luo, Jianyuan
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2014, 447 (01) : 115 - 120
  • [36] Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways
    Tuxworth, Richard I.
    Vivancos, Valerie
    O'Hare, Megan B.
    Tear, Guy
    HUMAN MOLECULAR GENETICS, 2009, 18 (04) : 667 - 678
  • [37] Cln3 function is linked to osmoregulation in a Dictyostelium model of Batten disease
    Mathavarajah, Sabateeshan
    McLaren, Meagan D.
    Huber, Robert J.
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2018, 1864 (11): : 3559 - 3573
  • [38] Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
    Järvelä, I
    Sainio, M
    Rantamäki, T
    Olkkonen, VM
    Carpén, O
    Peltonen, L
    Jalanko, A
    HUMAN MOLECULAR GENETICS, 1998, 7 (01) : 85 - 90
  • [39] REGIONAL MAPPING OF THE BATTEN DISEASE LOCUS (CLN3) TO HUMAN CHROMOSOME-16P12
    CALLEN, DF
    BAKER, E
    LANE, S
    NANCARROW, J
    THOMPSON, A
    WHITMORE, SA
    MACLENNAN, DH
    BERGER, R
    CHERIF, D
    JARVELA, I
    PELTONEN, L
    SUTHERLAND, GR
    GARDINER, RM
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (06) : 1372 - 1377
  • [40] CLN3, the protein associated with batten disease: Structure, function and localization
    Phillips, SN
    Benedict, JW
    Weimer, JM
    Pearce, DA
    JOURNAL OF NEUROSCIENCE RESEARCH, 2005, 79 (05) : 573 - 583