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

  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},
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


Publications citing this paper.
Showing 1-10 of 142 extracted citations

A case of systemic amyloidosis associated with cyclic neutropenia

Pediatric Nephrology • 2010
View 7 Excerpts
Highly Influenced

Angeborene Störungen der Blutbildung

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz • 2007
View 8 Excerpts
Highly Influenced


Publications referenced by this paper.
Showing 1-10 of 29 references

Inhibition of human neutrophil elastase

Cregge, R.J
J. Med. Chem • 1998

Leukocyte elastase. in Handbook of Proteolytic Enzymes

J. G. Bieth

substitution of the S1 site and adjacent loops reconstitutes esterase specificity but not amidase activity

S. H. Hung, Hedstrom, L. Converting trypsin to elastase
Protein Eng. 11, 669–673 • 1998

Characterization of the P2 ́ and P3 ́ specificities of thrombin using fluorescence-quenched substrates and mapping of the subsites by mutagenesis

Le Bonniec, B.F
Biochemistry 35, • 1996

Similar Papers

Loading similar papers…