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

doi:10.1006/bbrc.1998.8141

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	572-578
Number of pages	7
Journal	Biochemical and Biophysical Research Communications
Volume	243
Issue number	2
DOIs	https://doi.org/10.1006/bbrc.1998.8141
State	Published - Feb 13 1998

Funding

This work was supported by a BMH4-CT96-0554 grant to the European Chromosome 21 consortium and by grants from the FundacioÂ Catalana SõB ndrome de Down (MaratoÂ de TV3) 08 to R.O. and FIS 96/0658 and DGICYT (CE94-0021) to R.O.

ASJC Scopus subject areas

Molecular Biology
Biophysics
Biochemistry
Cell Biology

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10.1006/bbrc.1998.8141

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Vidal-Taboada, J. M., Bergoñón, S., Sánchez, M., López-Acedo, C., Groet, J., Nizetic, D., Egeo, A., Scartezzini, P., Katsanis, E. N., Fisher, E. M. C., Delabar, J. M., & Oliva, R. (1998). High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2. Biochemical and Biophysical Research Communications, 243(2), 572-578. https://doi.org/10.1006/bbrc.1998.8141

@article{d43593c8a8254bcfaf32543fe0b6b565,

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

abstract = "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.",

author = "Vidal-Taboada, {Jos{\'e} Manuel} and Salvador Bergo{\~n}{\'o}n and Mayca S{\'a}nchez and Cristina L{\'o}pez-Acedo and Jurgen Groet and Dean Nizetic and Aliana Egeo and Paolo Scartezzini and Katsanis, {Elias Nicholas} and Fisher, {Elizabeth M.C.} and Delabar, {Jean Maurice} and Rafael Oliva",

note = "Funding Information: This work was supported by a BMH4-CT96-0554 grant to the European Chromosome 21 consortium and by grants from the Fundacio{\^A} Catalana S{\~o}B ndrome de Down (Marato{\^A} de TV3) 08 to R.O. and FIS 96/0658 and DGICYT (CE94-0021) to R.O.",

year = "1998",

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doi = "10.1006/bbrc.1998.8141",

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Vidal-Taboada, JM, Bergoñón, S, Sánchez, M, López-Acedo, C, Groet, J, Nizetic, D, Egeo, A, Scartezzini, P, Katsanis, EN, Fisher, EMC, Delabar, JM & Oliva, R 1998, 'High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2', Biochemical and Biophysical Research Communications, vol. 243, no. 2, pp. 572-578. https://doi.org/10.1006/bbrc.1998.8141

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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 FundacioÂ Catalana SõB ndrome de Down (MaratoÂ 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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High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2

Abstract

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ASJC Scopus subject areas

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