High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2.


Journal Article

The identification and mapping of genes within the Down syndrome region is an important step toward a complete understanding of the pathogenesis of this disorder. The objective of the present work is to identify and map genes within the Down syndrome region-2. Chromosome 21 cosmid clones corresponding to "cosmid pockets" 121-124 have been first used as a starting material for generation of a single high resolution integrated cosmid/PAC contig with full EcoRI/SmaI restriction map. The integrated contig has been further anchored to genetic and physical maps through the positioning of 6 markers in the following order: ACTL5-D21S3-684G2T7-D21S71-D21S343-D21S 268. The entire contig covers 342 kb of the Down syndrome region-2 of chromosome 21. Subsequently, we have isolated, identified, and mapped four novel cDNAs which we have named N143, N144, CHD/333, and 90/3H1 and a potentially transcribed genomic sequence (E05133T7). Additionally, we have accurately located a previously described gene, the WRB gene, between the markers ACTL5-D21S268 within this Down Syndrome Region-2.

Full Text

Cited Authors

  • Vidal-Taboada, JM; Bergoñón, S; Sánchez, M; López-Acedo, C; Groet, J; Nizetic, D; Egeo, A; Scartezzini, P; Katsanis, N; Fisher, EM; Delabar, JM; Oliva, R

Published Date

  • February 13, 1998

Published In

Volume / Issue

  • 243 / 2

Start / End Page

  • 572 - 578

PubMed ID

  • 9480850

Pubmed Central ID

  • 9480850

International Standard Serial Number (ISSN)

  • 0006-291X

Digital Object Identifier (DOI)

  • 10.1006/bbrc.1998.8141


  • eng

Conference Location

  • United States