Chromosome 10


Human chromosome 10, a medium‐size (∼134 Mb) submetacentric chromosome, corresponds to 4.45% of the total genome length and contains 1899 genes of all types. About 80% of the 722 protein‐coding genes can be classified into one or more functional categories. and are among the well‐studied chromosome 10 genes in health and disease. Currently, 120 genes are causatively linked with 172 Mendelian disorders. More than 500 common diseases – Alzheimer disease; diabetes; bipolar disorder; blood pressure; breast, prostate and colorectal cancer; Crohn disease and obesity – have been associated with SNPs (single‐nucleotide polymorphisms) of this chromosome. Aneuploidies and structure aberrations involving chromosome 10 have been determined in several cancer types. Various types of leukaemia or lymphomas have been associated with balanced and/or unbalanced 10p translocations. The histone methyltransferase KMT2A is involved in most cases. Similarly, 10q translocations are predominantly associated with acute lymphoblastic leukaemia/lymphoblastic or follicular lymphoma.

Key Concepts

  • Human chromosome 10 corresponds to 4.45% of the total genome length.
  • HUGO Gene Nomenclature Committee (HGNC) has assigned unique symbols and names to 709 protein‐coding genes of chromosome 10.
  • Chromosome 10q21.3–q24.2 is the most dense gene region.
  • Human chromosome 10 is almost exclusively syntenic with chimpanzee, gorilla and orangutan chromosomes 10 or macaque and olive baboon chromosomes 9.
  • One hundred and twenty chromosome 10 protein‐coding genes are causatively linked with 173 Mendelian diseases; 80 allelic forms of these diseases are caused by 28 genes.
  • Six hundred and twenty‐six studies associate 1183 chromosome 10 SNPs with 521 common diseases.
  • Recurrent chromosome 10 somatic trisomies and monosomies have been determined in 79 and 133 types of cancer, respectively.
  • Recurrent balanced and unbalanced chromosome 10 translocations are associated, predominantly, with various types of leukaemia or lymphomas.

Keywords: human chromosome 10; Mendelian diseases; multifactorial diseases; synteny; GWAS; chromosome 10 aberrations; fragile sites; genetic heterogeneity; digenic inheritance; noncoding RNAs

Figure 1. Distribution of the biological process for 557 protein coding genes of chromosome 10. Note: The relative percentages (%) represent gene functions and not actual number of genes.


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Web Links

National Center of Biotechnology Information,

Ensembl gene annotation system,

LncRNADisease database,

Catalogue of imprinted Genes,

Repository for high‐quality gene models produced by the manual annotation of vertebrate genomes,

The Human Protein Atlas,

UniProt: a hub for protein information,

PANTHER (Protein ANalysis THrough Evolutionary Relationships) Classification System,, Version 11.1

NHGRI‐EBI Catalog of published genome‐wide association studies,

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes,

Gene Ontology Consortium,

Disease Ontology, a standardized ontology for human disease, http://disease‐

Cancer Genome Anatomy Project,

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How to Cite close
Sarafidou, Theologia, and Moschonas, Nicholas(Mar 2017) Chromosome 10. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005819.pub3]