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

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Abstract
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 h SIM 2 where at least 41 rare-cutting sites were clustered within a 20-kb region. To investigate the structure of the cluster, a cosmid containing h SIM 2 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 h SIM 2. Taken together with our observation in which the CpG islands were concentrated within 1.2 Mb around h SIM 2, 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 h SIM 2 locus.

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