A novel mutation in the gene for canine acid β-galactosidase that causes GM1-gangliosidosis in Shiba dogs

被引:29
|
作者
Yamato, O [1 ]
Endoh, D
Kobayashi, A
Masuoka, Y
Yonemura, M
Hatakeyama, A
Satoh, H
Tajima, M
Yamasaki, M
Maede, Y
机构
[1] Hokkaido Univ, Lab Internal Med, Dept Vet Clin Sci, Grad Sch Vet Med, Sapporo, Hokkaido, Japan
[2] Rakuno Gakuen Univ, Dept Vet Radiol, Fac Vet Med, Ebetsu, Hokkaido 069, Japan
[3] Midorinomori Anim Hosp, Asahikawa, Hokkaido, Japan
[4] Midorinomori Anim Hosp, Sapporo, Hokkaido, Japan
[5] Hokkaido Univ, Vet Teaching Hosp, Grad Sch Vet Med, Sapporo, Hokkaido, Japan
关键词
D O I
10.1023/A:1021280007739
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A homozygous recessive mutation, causing GM1-gangliosidosis in Shiba dogs, was identified as a deletion of C nucleotide 1668 in the gene for canine acid beta-galactosidase, which was a novel mutation in canine GM1-gangliosidosis.
引用
收藏
页码:525 / 526
页数:2
相关论文
共 50 条
  • [1] Isolation and characterization of the normal canine β-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis
    Wang, ZH
    Zeng, B
    Shibuya, H
    Johnson, GS
    Alroy, J
    Pastores, GM
    Raghavan, S
    Kolodny, EH
    JOURNAL OF INHERITED METABOLIC DISEASE, 2000, 23 (06) : 593 - +
  • [2] A duplication in the canine β-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies
    Kreutzer, R
    Leeb, T
    Müller, G
    Moritz, A
    Baumgärtner, W
    GENETICS, 2005, 170 (04) : 1857 - 1861
  • [3] Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis
    Silva, CMD
    Severini, MH
    Sopelsa, A
    Coelho, JC
    Zaha, A
    d'Azzo, A
    Giugliani, R
    HUMAN MUTATION, 1999, 13 (05) : 401 - 409
  • [4] GM1 gangliosidosis in shiba dogs
    Yamato, O
    Ochiai, K
    Masuoka, Y
    Hayashida, E
    Tajima, M
    Omae, S
    Iijima, M
    Umemura, T
    Maede, Y
    VETERINARY RECORD, 2000, 146 (17) : 493 - 496
  • [5] NEUROVISCERAL AND SKELETAL GM1-GANGLIOSIDOSIS IN DOGS WITH BETA-GALACTOSIDASE DEFICIENCY
    ALROY, J
    ORGAD, U
    UCCI, AA
    SCHELLING, SH
    SCHUNK, KL
    WARREN, CD
    RAGHAVAN, SS
    KOLODNY, EH
    SCIENCE, 1985, 229 (4712) : 470 - 472
  • [6] Clinical and clinico-pathologic characteristics of shiba dogs with a deficiency of lysosomal acid β-galactosidase:: A canine model of human GM1 gangliosidosis
    Yamato, O
    Masuoka, Y
    Yonemura, M
    Hatakeyama, A
    Satoh, H
    Kobayashi, A
    Nakayama, M
    Asano, T
    Shoda, T
    Yamasaki, M
    Ochiai, K
    Umemura, T
    Maede, Y
    JOURNAL OF VETERINARY MEDICAL SCIENCE, 2003, 65 (02): : 213 - 217
  • [7] GM1-GANGLIOSIDOSIS - A MOLECULAR ABNORMALITY OF ACID BETA-GALACTOSIDASE IN FIBROBLASTS
    FURUYA, T
    SUZUKI, Y
    JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (03) : 145 - 146
  • [8] LEUKOCYTE BETA-GALACTOSIDASE ACTIVITY IN GM1-GANGLIOSIDOSIS
    YOUNG, E
    ELLIS, RB
    PATRICK, AD
    PEDIATRICS, 1972, 50 (03) : 502 - &
  • [9] BETA-D-GALACTOSIDASE ACTIVITIES IN JUVENILE GM1-GANGLIOSIDOSIS
    HULTBERG, B
    SJOBLAD, S
    ACTA NEUROLOGICA SCANDINAVICA, 1978, 58 (04): : 221 - 229
  • [10] β-Galactosidase-deficient mouse as an animal model for GM1-gangliosidosis
    Junichiro Matsuda
    Osamu Suzuki
    Akihiro Oshima
    Atsuo Ogura
    Yoko Noguchi
    Yoshie Yamamoto
    Toshihiko Asano
    Kazuhiro Takimoto
    Kazuko Sukegawa
    Yoshiyuki Suzuki
    Masaharu Naiki
    Glycoconjugate Journal, 1997, 14 : 729 - 736