Fanconi Anemia, Complementation Group B 蛋白 (FANCB)

Human Fanconi Anemia, Complementation Group B (FANCB) interaction partners

1. We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*).

2. Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of Fanconi anemia group B protein (FANCB) and predicted to be associated with normal function.

3. Loss-of-function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis.

4. Inactivation of FancB may play a role in the pathogenesis of sporadic HNSCC.

5. Elevated serum FA-2 was associated with bony metastases from breast cancer.

6. the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein 'core complex' responsible for monoubiquitination of FANCD2

7. summary of recent advances in the Fanconi anemia-BRCA network with emphasis on the new discovery of FAAP95 as the true FANCB gene [review]

8. Mutations in FANCB are a cause of X linked VACTERL-H syndrome.

9. Mus81 and FANCB have different roles in repair of DNA damage during replication in human cells

10. Our results rule out a major contribution of FANCB to hereditary breast cancer.

Mouse (Murine) Fanconi Anemia, Complementation Group B (FANCB) interaction partners

1. Data suggest that Fanconi anemia complementation group B protein Fancb(-/y) mouse model for studying the Fanconi anemia (FA) pathway not only in germ cell development but also in the maintenance of hematopoietic stem cell (HSC) function.

2. FANCB functions at critical stages of germ cell development and reveal a novel function of the FA pathway in the regulation of H3K9 methylation in the germline.