TY - JOUR
T1 - High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2
AU - Vidal-Taboada, José Manuel
AU - Bergoñón, Salvador
AU - Sánchez, Mayca
AU - López-Acedo, Cristina
AU - Groet, Jurgen
AU - Nizetic, Dean
AU - Egeo, Aliana
AU - Scartezzini, Paolo
AU - Katsanis, Elias Nicholas
AU - Fisher, Elizabeth M.C.
AU - Delabar, Jean Maurice
AU - Oliva, Rafael
N1 - Funding Information:
This work was supported by a BMH4-CT96-0554 grant to the European Chromosome 21 consortium and by grants from the Fundacio Catalana SõB ndrome de Down (Marato de TV3) 08 to R.O. and FIS 96/0658 and DGICYT (CE94-0021) to R.O.
PY - 1998/2/13
Y1 - 1998/2/13
N2 - 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.
AB - 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.
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U2 - 10.1006/bbrc.1998.8141
DO - 10.1006/bbrc.1998.8141
M3 - Article
C2 - 9480850
AN - SCOPUS:0345487012
SN - 0006-291X
VL - 243
SP - 572
EP - 578
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
IS - 2
ER -