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Investigation of Batten disease with the yeast Saccharomyces cerevisiae.

Abstract：

:The CLN3 gene, which encodes the protein whose absence is responsible for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995. The function of the protein, Cln3p, still remains elusive. We previously cloned the Saccharomyces cerevisiae homolog to the human CLN3 gene, designated BTN1, whose product is 39% identical and 59% similar to Cln3p. We report that yeast strains lacking Btn1p, btn1-Delta deletion yeast strains, are more resistant to d-(-)-threo-2-amino-1-[p-nitrophenyl]-1,3-propanediol (ANP), in a pH-dependent manner. This phenotype is complemented in yeast by the human CLN3 gene. In addition, point mutations characterized in CLN3 from individuals with less severe forms of Batten disease, when introduced into BTN1, altered the degree of ANP resistance. Severity of Batten disease due to mutations in CLN3 and the degree of ANP resistance in yeast are related when the equivalent amino acid replacements in Cln3p and Btn1p are compared. These results indicate that yeast can be used as a model for the study of Batten disease.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Pearce DA,Sherman F

doi

10.1006/mgme.1999.2820

subject

Has Abstract

pub_date

1999-04-01 00:00:00

pages

314-9

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(99)92820-2

journal_volume

66

pub_type

杂志文章

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