A 19-kb CpG Island Associated with Single-minded Gene 2 in Down Syndrome Chromosomal Region |
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Authors: | Osoegawa Kazutoyo; Okano Saishi; Kato Yasutake; Nishimura Yukinobu; Soeda Eiichi |
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Institution: | 1RIKEN Gene Bank, Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN) 3-1-1 Koyadai, Tsukuba 305, Japan
2Laboratory of Molecular Biology, Toho University Funabasi, Chiba 274, Japan |
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Abstract: | To help in isolating the genes involved in Down syndrome, wesought CpG islands in 4 Mb cosmid/PAC contigs spanning mostof the 21q.22.2 band using seven rare cutting enzymes. A strikingfeature was observed upstream of hSIM2 where at least 41 rare-cuttingsites were clustered within a 20-kb region. To investigate thestructure of the cluster, a cosmid containing hSIM2 was submittedto shotgun sequencing. Sequence analysis revealed that the clusterwas a long CpG island extending 19, 128 nucleotides which includesin the first and second exons of hSIM2. Taken together withour observation in which the CpG islands were concentrated within1.2 Mb around hSIM2, we propose that this region functions asan R-band, and the cluster provides a unique element for markingof DNA for the spatial and temporal expression of the hSIM2locus. |
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Keywords: | Down syndrome CpG cluster hSIM2 R-banding activity human chromosome 21 |
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