A gene expression map of human chromosome 21 orthologues in the mouse Academic Article uri icon

Overview

MeSH Major

  • Chromosomes, Human, Pair 21
  • Gene Expression Profiling
  • Gene Expression Regulation, Developmental
  • Mice
  • Sequence Homology, Nucleic Acid

abstract

  • The DNA sequence of human chromosome 21 (HSA21) has opened the route for a systematic molecular characterization of all of its genes. Trisomy 21 is associated with Down's syndrome, the most common genetic cause of mental retardation in humans. The phenotype includes various organ dysmorphies, stereotypic craniofacial anomalies and brain malformations. Molecular analysis of congenital aneuploidies poses a particular challenge because the aneuploid region contains many protein-coding genes whose function is unknown. One essential step towards understanding their function is to analyse mRNA expression patterns at key stages of organism development. Seminal works in flies, frogs and mice showed that genes whose expression is restricted spatially and/or temporally are often linked with specific ontogenic processes. Here we describe expression profiles of mouse orthologues to HSA21 genes by a combination of large-scale mRNA in situ hybridization at critical stages of embryonic and brain development and in silico (computed) mining of expressed sequence tags. This chromosome-scale expression annotation associates many of the genes tested with a potential biological role and suggests candidates for the pathogenesis of Down's syndrome.

publication date

  • December 5, 2002

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1038/nature01270

PubMed ID

  • 12466855

Additional Document Info

start page

  • 586

end page

  • 90

volume

  • 420

number

  • 6915