Chromosome 8


Chromosome 8 is a submetacentric chromosome containing about 5% of the euchromatic human genome. The total length of the chromosome has been estimated at 145 138 636 bp. Sequence analysis and annotation indicated that the chromosome contains 677 protein coding genes and 1031 noncoding genes. There are multiple online resources that provide sequence and mapping information for chromosome 8. These include the NCBI (National Center for Biotechnology Information) Map Viewer, the Mitelman Map, the Marshall Map and the OMIM (Online Mendelian Inheritance in Man) Morbid Map. Compilations of these sources suggest that chromosome 8 contains approximately 223 phenotypes, diseases or syndromes. Of these, 45 have yet to be associated with specific genes. Notably, a region of the distal p‐arm on chromosome 8 has a strikingly high mutation rate. In this region, the majority of the genes are involved in development or signalling of the nervous system.

Key Concepts

  • Chromosomes contain gene clusters.
  • Certain chromosomal regions contain high mutation rates.
  • Many diseases and syndromes do not correspond to specific genes.
  • A single gene can produce multiple phenotypes, disease and syndromes.
  • Some syndromes are not directly linked to a specific gene or genes, but to chromosomal morphology.

Keywords: chromosome 8; syndrome; disease genes; sequencing; phenotypes


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Hilton, Matthew J, and Wells, Dan E(Jan 2017) Chromosome 8. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005817.pub3]