DNA cross-link repair 1A protein is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''DCLRE1A''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

DNA Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of al ...

interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1A is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000). upplied by OMIMref name="entrez" />

Function

The protein DCLRE1A (DNA cross-link repair 1A) is also referred to as SNM1A (sensitive to nitrogen mustard 1A). DCLRE1A is a 5’ to 3’

exonuclease Exonucleases are enzymes that work by cleaving nucleotides one at a time from the end (exo) of a polynucleotide chain. A hydrolyzing reaction that breaks phosphodiester bonds at either the 3′ or the 5′ end occurs. Its close relative is th ...

that forms a complex with the

Cockayne syndrome Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight ( photo ...

B ( CSB) protein. In this complex, CSB modulates the exonuclease activity of DCLRE1A and coordinates the efficient assembly of DCLRE1A to sites of

DNA damage DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. A weakened capacity for DNA repair is a risk factor for the development of cancer. DNA is constantly modified ...

. In human cells, this complex is recruited to DNA inter-strand cross-links, a form of

. The complex then participates in the repair of the cross-linked DNA. DCLRE1A protein is thought to be recruited by CSB to facilitate cross-link unhooking following incision 5’ to the cross-link by another complex, the

ERCC1 DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the ''ERCC1'' gene. Together with ERCC4, ERCC1 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination. Many aspects of these two gen ...

/ XPF nuclease complex. Failure of the DCLRE1A/CSB complex to carry out its repair function may contribute to the degenerative pathologies and

premature aging Progeroid syndromes (PS) are a group of rare genetic disorders that mimic physiological aging, making affected individuals appear to be older than they are. The term ''progeroid syndrome'' does not necessarily imply progeria ( Hutchinson–Gilfor ...

features of Cockayne syndrome.

Function

References

Further reading