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Human DNA Repair Genes

This is an update of the table cited in Wood RD, Mitchell M, & Lindahl T Mutation Research, 2005, in Science, 2001, in the reference book DNA Repair and Mutagenesis, 2nd edition, 2006, and in Nature Reviews Cancer, 2011

This table was last modified by R. Wood and M. Lowery on Wednesday 10th June 2020

Base excision repair (BER)

Direct reversal of damage

Repair of DNA-protein crosslinks

Mismatch excision repair (MMR)

Nucleotide excision repair (NER)

Homologous recombination

Fanconi anemia

Non-homologous end-joining

Modulation of nucleotide pools

DNA polymerases (catalytic subunits)

Editing and processing nucleases

Ubiquitination and modification

Chromatin Structure

Genes defective in diseases associated with sensitivity to DNA damaging agents

Other identified genes with known or suspected DNA repair function

Other conserved DNA damage response genes

Related papers

Gene Name (synonyms)
linked to

Some gene products act in more than one pathway, but each is listed only once below

Activity
linked to
Chromosome location
linked to
Accession number
linked to
 

Base excision repair (BER)

DNA glycosylases: major altered base released

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Direct reversal of damage

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Repair of DNA-protein crosslinks

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Mismatch excision repair (MMR)

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Mismatch (MSH2-MSH6) and loop (MSH2-MSH3) recognition

, ,

MutL homologs, forming heterodimer

,

MutS homologs specialized for meiosis

,

MutL homologs of unknown function

, PMS2L3

 
Nucleotide excision repair (NER) (XP = xeroderma pigmentosum)

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Binds DNA distortions

, ,

Complex defective in XP group E

,

Binds DNA in preincision complex

, ,

TFIIH Catalyzes unwinding in preincision complex

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Kinase subunits of TFIIH

, ,

 
NER-related

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Cockayne syndrome and UV-Sensitive Syndrome; Needed for transcription-coupled NER

, ,

 
Homologous recombination

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Shu subunits, RAD51 recruitment

, , ,

DNA break and crosslink repair

,

Accessory factors for recombination

, ,

Recruit cohesion during HR

,

Suppressing end-resection

, ,

Subunits of structure-specific DNA nuclease

, ,

Subunit of SLX1-SLX4 structure-specific nuclease, two identical tandem genes in the human genome

,

       
Fanconi anemia

Tolerance and repair of DNA crosslinks and other adducts in DNA

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,
,
       
Non-homologous end-joining

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Modulation of nucleotide pools

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DNA polymerases

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Pol delta subunits

, ,

,

Pol epsilon subunits

, , ,

 
Editing and processing nucleases

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incision 3' of hypoxanthine and uracil in DNA and inosine in RNA
 
Ubiquitination and modification

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Ubiquitin-conjugating complex

,

 
Chromatin Structure and Modification

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Genes defective in diseases associated with sensitivity to DNA damaging agents

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Other identified genes with known or suspected DNA repair function

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Other conserved DNA damage response genes

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subunits of PCNA-like sensor of damaged DNA

, ,

Effector kinases

,

Related Publications:

This table was last modified by R. Wood and M. Lowery on Wednesday 10th June 2020