Mutational analyses of the signals involved in the subcellular location of DSCR1.

ABSTRACT:

Background

Down syndrome is the most frequent genetic disorder in humans. Rare cases involving partial trisomy of chromosome 21 allowed a small chromosomal region common to all carriers, called Down Syndrome Critical Region (DSCR), to be determined. The DSCR1 gene was identified in this region and is expressed preferentially in the brain, heart and skeletal muscle. Recent studies have shown that DSCR1 belongs to a family of proteins that binds and inhibits calcineurin, a serine-threonine phosphatase. The work reported on herein consisted of a study of the subcellular location of DSCR1 and DSCR1-mutated forms by fusion with a green fluorescent protein, using various cell lines, including human.

Results

The protein's location was preferentially nuclear, independently of the is

SUBMITTER: Pfister SC 

PROVIDER: S-EPMC128833 | biostudies-literature | 2002 Sep

REPOSITORIES: biostudies-literature