Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome Academic Article uri icon

Overview

MeSH Major

  • Chromosome Mapping
  • Chromosomes, Human, Pair 21
  • Down Syndrome
  • Transcription, Genetic

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.

publication date

  • February 15, 1998

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1006/geno.1997.5146

PubMed ID

  • 9503011

Additional Document Info

start page

  • 12

end page

  • 23

volume

  • 48

number

  • 1