Fanconi anemia is a rare multi-genic, autosomal and X-linked recessive disorder characterized by hematological abnormalities, developmental defects and increased cancer susceptibility. FA is a multi-system disorder and the physical abnormalities include short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ear, heart, gastrointestinal system, oral cavity, and central nervous system; hearing loss; hypogonadism; and developmental delay. Children with FA frequently develop pancytopenia during the first decade of life. FA patients are predisposed to many types of cancers and acute myeloblastic leukemia (AML) is the most common cancer. Older patients can also develop squamous cell carcinoma of the head and neck. FA has an incidence of less than 1 per 100,000 live births. The disease has a general, worldwide prevalence of 1-5 per million and is found in all races and ethnic groups.


FA is genetically heterogenous, consisiting of atleast 13 complementation groups. Genes for all the 13 complementation groups have been cloned and identified: FANCA (OMIM-607139), FANCB (OMIM-300514), FANCC (OMIM-227645), FANCD1 (OMIM-605724), FANCD2 (OMIM-227646), FANCE (OMIM-600901), FANCF (OMIM-603467), FANCG (OMIM-602956), FANCI (OMIM-609053), FANCJ (OMIM-605882),  FANCL (OMIM-608111) FANCM (OMIM-6096440) and FANCN (OMIM-610832). FA proteins interact to form a nuclear FANCA/B/C/E/F/G/L/M core complex which promotes monoubiquitination of FANCD2. FA proteins are involved in the signaling of DNA repair pathway and help the cells recover from DNA damage.

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The aim of this work is to

Identify and characterize genes involved in the signaling of DNA repair pathway using FA as model.

 

Related Publications:


1. Ling, C. Ishiai M., Ali, A. M. et al. EMBO J (2007) 26(8), 2104–2114 (full text: HTML/PDF)