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DNA damage repair

Biochemistry
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DNA damaging agents

DNA lesions

DNA Repair Mechanism

Related Diseases

• Ionizing radiation

• X-rays

• Anti tumour drugs

• Double / Single strand breaks

• Intra strand crosslink

Homologous Repair

(HR)

• AT-like disorder (ATLD)

• Bloom syndrome

• Breast cancer

(BRCA 1 & 2 mutations)

• Nijmegen breakage syndrome (NBS)

• Werner syndrome

• Rothmund-Thomson syndrome (RTS)

• UV rays

• Chemicals

• Bulky adducts

• Pyrimidine dimers

DNA Nucleotide Excision

Repair (NER)

• Xeroderma pigmentosum (XP)

• Cockayne syndrome (CS)

• Trichothiodystrophy (TTD)

• Oxygen radicals

• Hydrolysis

• Alkylating agents

• Abasic sites

• Single strand breaks

• 8-oxoguanine lesions

DNA Base Excision Repair

(BER)

• MUTYH-associated polyposis (MAP)

• Replication error

• Base mismatch

• Insertion

• Deletion

DNA Mismatch Repair

(MMR)

• Lynch syndrome (Hereditary nonpolyposis

colorectal cancer, HNPCC)

 

Defective Homologous Repair (HR)- 

1. AT-like disorder (ATLD)

2. Bloom syndrome (BS)

3. Breast cancer susceptibility 1 & 2 (BRCA 1 & 2)

4. Nijmegen breakage syndrome (NBS)

5. Werner syndrome

6. Rothmund-Thomson syndrome (NBS)

 

Defective Non-homologous End Joining (NHEJ)- 

1. Severe combined immunodeficiency (SCID)

2. Radiation sensitive SCID (RS-SCID)