Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis

@article{Horwitz1999MutationsIE,
  title={Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis},
  author={Marshall Horwitz and Kathleen F. Benson and Richard Erwin Person and Andrew A. G. Aprikyan and David C Dale},
  journal={Nature Genetics},
  year={1999},
  volume={23},
  pages={433-436}
}
Human cyclic haematopoiesis (cyclic neutropenia, MIM 162800) is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency. Here we use a genome-wide screen and positional cloning to map… CONTINUE READING

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