Abstract
The triplication of a region of chromosome 21 around D21S55 in 21q22.2–22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR). To improve the physical map of this region, we screened yeast artificial chromosome (YAC) libraries with ETS2 and ERG sequences. Five selected clones were analyzed by AluPCR, pulsed-field gel electrophoresis, and in situ hybridization. A 1.2-Mg contig, encompassing the protooncogenes ETS2 and ERG, was identified, its restriction map established and compared to the genomic map. ERG is distal to D21S55 and proximal to ETS2. ERG and ETS2 genes are 400 kb apart and in opposite orientations. The contig contains the distal boundary and part of the DCR. Three putative HTF islands were identified.
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Acknowledgements
We are grateful to Françoise Le Dez for her contribution to this work, to Z. Chettouh for technical assistance, to M. L. Yaspo for sharing unpublished data, to
J. M. Delabar for helpful discussion, to D. Le Paslier and D. Cohen for providing the YACs of the CEPH library, to I. Chumakov for providing D21S3 screening data of the CEPH library, to D. Patterson for providing the YACs of the Chromosome 21 Joint YAC Screening Effort and the hybrids ACEM, GA9-3, 1881c-13b and 9542-5c, to P. Watkins for the probe D21S55, to D. Stéhelin for the ETS2 cDNA, to M. Bustin for the HMG14 probe and to M. Poissonnier who referred patient FG.
This work was financially supported by Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, Ministère de la Recherche et de la Technologie, Faculté Necker, Université Paris V, N.C. has been supported by the Association Française contre les Myopathies, and Association de Recherche sur le Cancer.
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Crété, N., Gosset, P., Théophile, D. et al. Mapping the Down Syndrome Chromosome Region. Eur J Hum Genet 1, 51–63 (1993). https://doi.org/10.1159/000472387
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DOI: https://doi.org/10.1159/000472387
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