Journal Article

A 19-kb CpG Island Associated with Single-minded Gene 2 in Down Syndrome Chromosomal Region

Kazutoyo Osoegawa, Saishi Okano, Yasutake Kato, Yukinobu Nishimura and Eiichi Soeda

in DNA Research

Published on behalf of Kazusa DNA Research Institute

Volume 3, issue 3, pages 175-179
Published in print January 1996 | ISSN: 1340-2838
Published online January 1996 | e-ISSN: 1756-1663 | DOI: http://dx.doi.org/10.1093/dnares/3.3.175

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To help in isolating the genes involved in Down syndrome, we sought CpG islands in 4 Mb cosmid/PAC contigs spanning most of the 21q.22.2 band using seven rare cutting enzymes. A striking feature was observed upstream of hSIM2 where at least 41 rare-cutting sites were clustered within a 20-kb region. To investigate the structure of the cluster, a cosmid containing hSIM2 was submitted to shotgun sequencing. Sequence analysis revealed that the cluster was a long CpG island extending 19, 128 nucleotides which includes in the first and second exons of hSIM2. Taken together with our observation in which the CpG islands were concentrated within 1.2 Mb around hSIM2, we propose that this region functions as an R-band, and the cluster provides a unique element for marking of DNA for the spatial and temporal expression of the hSIM2 locus.

Keywords: Down syndrome; CpG cluster; hSIM2; R-banding activity; human chromosome 21

Journal Article.  0 words. 

Subjects: Genetics and Genomics

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