DNASE1


Description

The DNASE1 (deoxyribonuclease 1) is a protein-coding gene located on chromosome 16.

DNase I, or deoxyribonuclease I, is an enzyme encoded by the human gene DNASE1. It belongs to the DNase family and functions as a nuclease that breaks down DNA. DNase I preferentially cleaves DNA at phosphodiester linkages next to pyrimidine nucleotides, resulting in 5'-phosphate-terminated polynucleotides with a free hydroxyl group at position 3'. This process typically yields tetranucleotides. DNase I acts on both single- and double-stranded DNA, as well as chromatin. Besides its role in waste management, DNase I may be involved in DNA fragmentation during apoptosis. DNase I binds to the cytoskeletal protein actin, with very high affinity for actin monomers and lower affinity for actin polymers. The function of this interaction is unknown, but since actin-bound DNase I is inactive, it might represent a storage form of the enzyme, preventing accidental DNA damage. DNase I is stored in zymogen granules of the nuclear envelope and acts by cleaving DNA endonucleolytically. At least six autosomal codominant alleles of the DNASE1 gene have been identified, designated DNASE11 through DNASE16. The sequence of DNASE1*2 is represented in this record.

DNase I is a serum endonuclease secreted into body fluids by various exocrine and endocrine organs. It is expressed in non-hematopoietic tissues and preferentially cleaves protein-free DNA. DNase I participates in apoptosis (programmed cell death) and binds specifically to G-actin, inhibiting actin polymerization. Working with DNase I-like 3 (DNASE1L3), DNase I plays a crucial role in degrading neutrophil extracellular traps (NETs). These DNA fiber networks are released by neutrophils during inflammation to bind pathogens. The breakdown of intravascular NETs by DNase I and DNase1L3 is vital to prevent clot formation that can obstruct blood vessels and cause organ damage after inflammation.

DNASE1 is also known as DNL1, DRNI.

Associated Diseases


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