title: Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.
abstract: The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. Cosmid contigs covering 80% of the region were constructed and EcoRI maps produced. These cosmids were used for exon trapping and cDNA selection from three cDNA libraries (fetal brain, fetal liver, and adult skeletal muscle). Isolated exons and cDNAs were mapped on the EcoRI map, organized into contigs, sequenced, and used as probes for Northern blot analysis of RNA from fetal and adult tissues. We identified 27 genuine or highly probable transcriptional units evenly distributed along the CBR-ERG region. Eight of the transcriptional units are known genes.
authors.affiliation: CNRS URA 1335, Faculté de Médecine Necker-Enfants Malades, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Dahmane
authors.forename: G A
authors.initials: GA
authors.lastname: Ghezala
authors.forename: P
authors.initials: P
authors.lastname: Gosset
authors.forename: Z
authors.initials: Z
authors.lastname: Chamoun
authors.forename: M C
authors.initials: MC
authors.lastname: Dufresne-Zacharia
authors.forename: C
authors.initials: C
authors.lastname: Lopes
authors.forename: N
authors.initials: N
authors.lastname: Rabatel
authors.forename: S
authors.initials: S
authors.lastname: Gassanova-Maugenre
authors.forename: Z
authors.initials: Z
authors.lastname: Chettouh
authors.forename: V
authors.initials: V
authors.lastname: Abramowski
authors.forename: E
authors.initials: E
authors.lastname: Fayet
authors.forename: M L
authors.initials: ML
authors.lastname: Yaspo
authors.forename: B
authors.initials: B
authors.lastname: Korn
authors.forename: J L
authors.initials: JL
authors.lastname: Blouin
authors.forename: H
authors.initials: H
authors.lastname: Lehrach
authors.forename: A
authors.initials: A
authors.lastname: Poutska
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: P M
authors.initials: PM
authors.lastname: Sinet
authors.forename: N
authors.initials: N
authors.lastname: Créau
authors.forename: J M
authors.initials: JM
authors.lastname: Delabar
mesh_terms: D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002891:Chromosomes, Human, Pair 21; D003360:Cosmids; D018076:DNA, Complementary; D004314:Down Syndrome / Q000235:genetics*; D005091:Exons; D006801:Humans; D016324:Sequence Tagged Sites; D014158:Transcription, Genetic
chemical_list: D018076:DNA, Complementary