Journal Article

A Novel Gene Isolated from Human Placenta Located in Down Syndrome Critical Region on Chromosome 21

Akiko Nakamura, Masahira Hattori and Yoshiyuki Sakaki

in DNA Research

Published on behalf of Kazusa DNA Research Institute

Volume 4, issue 5, pages 321-324
Published in print January 1997 | ISSN: 1340-2838
Published online January 1997 | e-ISSN: 1756-1663 | DOI:

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Down syndrome is the most common birth defect, which is caused by trisomy 21. We identified a novel gene in the so-called Down syndrome critical region by EST mapping to genomic DNA and following cDNA cloning. The gene, designated DCRB (Down syndrome Critical Region gene B), consisted ofthree exons of1095 bp in total and encoded a large open reading frame of118 amino acid residues. The amino acids sequence ofDCRB showed no significant homology to any known protein. Northern blot analysis showed that DCRB is mainly expressed in the placenta, in which a major 1.1-kb band and a minor 2.0-kb band were detected. Minor bands of 1.4 kb and 2.2 kb were also detected in adult heart and skeletal muscle.

Keywords: cDNA cloning; Down syndrome; chromosome 21

Journal Article.  0 words. 

Subjects: Genetics and Genomics

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