A disrupted homologue of the human CLN3 or juvenile neuronal ceroid lipofuscinosis gene in Saccharomyces cerevisiae:: A model to study Batten disease

被引：9

作者：

Guo, WX

Mao, CG

Obeid, LM

Boustany, RM

机构：

[1] Duke Univ, Med Ctr, Dept Pediat, MSRB, Durham, NC 27710 USA

[2] Med Univ S Carolina, Dept Med, Charleston, SC 29425 USA

来源：

CELLULAR AND MOLECULAR NEUROBIOLOGY | 1999年 / 19卷 / 05期

关键词：

Batten disease; degenerative disease; PCR-based gene disruption; Saccharomyces cerevisiae;

D O I：

10.1023/A:1006992704108

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

1. In order to investigate the biological function of the human CLN3 gene that is defective in Batten disease, we created a yeast strain by PCR-targeted disruption of the yeast gene (YHC3), which is a homologue of the human CLN3 gene. 2, The phenotypic characterization revealed that the yhc3 Delta mutants are more sensitive to combined heat and alkaline stress than the wild-type strains as determined by inhibition of cell proliferation. 3. This suggests that the yhc3 Delta mutant is a good model to investigate the biological function of human CLN3 gene in mammalian cells and to understand the pathophysiology of juvenile Batten disease.

引用

页码：671 / 680

页数：10

共 27 条

[1] Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease [J].