title: Mapping the Down syndrome chromosome region. Establishment of a YAC contig spanning 1.2 megabases.
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.
authors.affiliation: URA 1335 CNRS, Hôpital, Necker-Enfants-Malades, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Crété
authors.forename: P
authors.initials: P
authors.lastname: Gosset
authors.forename: D
authors.initials: D
authors.lastname: Théophile
authors.forename: M
authors.initials: M
authors.lastname: Duterque-Coquillaud
authors.forename: J L
authors.initials: JL
authors.lastname: Blouin
authors.forename: C
authors.initials: C
authors.lastname: Vayssettes
authors.forename: P M
authors.initials: PM
authors.lastname: Sinet
authors.forename: N
authors.initials: N
authors.lastname: Créau-Goldberg
mesh_terms: D001483:Base Sequence; D016386:Chromosome Walking; D018244:Chromosomes, Artificial, Yeast; D002891:Chromosomes, Human, Pair 21 / Q000648:ultrastructure*; D015342:DNA Probes; D018076:DNA, Complementary / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics*; D016521:Electrophoresis, Gel, Pulsed-Field; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011519:Proto-Oncogenes; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D015342:DNA Probes; D018076:DNA, Complementary