Somatic and germline genetics at the JAK2 locus

Nat Genet. 2009 Apr;41(4):385-6. doi: 10.1038/ng0409-385.


Myeloproliferative neoplasms are hematological malignancies frequently associated with somatically acquired mutation of the JAK2 gene. A new study shows that these mutations are preferentially found within a particular inherited JAK2 haplotype, implying the existence of a strong, but uncharacterized, interaction between somatic and germline genetics at this locus.

Publication types

  • Comment

MeSH terms

  • Chromosome Mapping
  • Germ-Line Mutation*
  • Haplotypes / genetics
  • Hematologic Neoplasms / enzymology
  • Hematologic Neoplasms / genetics*
  • Humans
  • Janus Kinase 2 / genetics*


  • JAK2 protein, human
  • Janus Kinase 2