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

José Manuel Vidal-Taboada, Salvador Bergoñón, Mayca Sánchez, Cristina López-Acedo, Jurgen Groet, Dean Nizetic, Aliana Egeo, Paolo Scartezzini, Elias Nicholas Katsanis, Elizabeth M.C. Fisher, Jean Maurice Delabar, Rafael Oliva

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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-D21S268. 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.

Original languageEnglish (US)
Pages (from-to)572-578
Number of pages7
JournalBiochemical and Biophysical Research Communications
Issue number2
StatePublished - Feb 13 1998

ASJC Scopus subject areas

  • Molecular Biology
  • Biophysics
  • Biochemistry
  • Cell Biology


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