anti-Fanconi Anemia, Complementation Group L (FANCL) Antibodies

Human Fanconi Anemia, Complementation Group L (FANCL) interaction partners

1. A novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene identified in a Chinese patient with Fanconi anemia.

2. Using small interfering RNA (siRNA), knockdown of FANCF, FANCL, or FANCD2 inhibited function of the FA/BRCA pathway in A549, A549/DDP and SK-MES-1 cells, and potentiated sensitivity of the three cells to cisplatin.

3. Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

4. a signal transduction pathway involved in self-renewal and survival of hematopoietic stem cells also functions to stabilize FANCL and suggesting that FANCL participates directly in support of stem cell function.

5. FAVL elevation can increase the tumorigenic potential of bladder cancer cells, including the invasive potential that confers the development of advanced bladder cancer.

6. Suppression of FANCL expression in normal CD34(+) stem and progenitor cells results in fewer beta-catenin active cells and inhibits expansion of multilineage progenitors.

7. FA DNA repair genes, FANCD2, FANCL, and FANCC, are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer

8. genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population.

9. FANCL is associated with acute lung injury in mice

10. expression of a novel splice variant of FA complementation group L (FANCL), named FAVL, can impair the FA pathway in non-FA tumor cells and act as a tumor promoting factor

11. data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2

12. FANCL, via its WD40 region, binds the FA complex and, via its PHD, recruits an as-yet-unidentified E2 for mono-ubiquitination of FANCD2

13. Abnormal FANCL expression is the cause leading to a defective Ranconi anemia-BRCA pathway, conferring sensitivity of a lung cancer cell line to mitomycin C>

14. the first report to describe hypermethylation of FANCC in leukemia

15. Upon the occurrence of DNA damage, FANCI becomes monoubiquitinated on Lys-523 by the UBE2T-FANCL pair.

16. results rule out a major role of FANCL in familial breast cancer susceptibility

17. FANCL is necessary for primordial germ cell proliferation during the embryonic stage but not necessary for spermatogonia proliferation in adulthood. Thus, mouse FancL-/- males are infertile at 7 to 12 weeks but gain fertility thereafter.

18. Deficiency of Fancl (also called Pog) is the cause of gcd mouse, which has a reduced number of primordial germ cells during the embryonic stage.

Mouse (Murine) Fanconi Anemia, Complementation Group L (FANCL) interaction partners

1. The authors report the structure of the human FANCL central domain and show that the RING domain is necessary and sufficient for E2 binding.

2. Using HeLa cells and lymphoblasts from Fanconi anemia patients, the authors characterize PHF9 (FANCL) as a ubiquitin ligase and show it is essential for FANCD2 monoubiquitination. The authors state that PHF9 is the human homolog of mouse Pog (Fancl).

3. FANCL increases the activity and expression of beta-catenin, a key pluripotency factor in hematopoietic stem cells.

4. UBE2W regulates FANCD2 monoubiquitination by mechanisms different from UBE2T and HRR6.

5. Fancl is associated with acute lung injury

6. expression of a novel splice variant of FA complementation group L (FANCL), named FAVL, can impair the FA pathway in non-FA tumor cells and act as a tumor promoting factor

7. Deletion of Pog causes germ cell deficiency, but is also accompanied by reduced embryonic body weight and sometimes lethality.

8. GGN1 and GGN3, interacted with POG, regulated the localization of POG, and played a role in spermatogenesis.

9. unlike in POG-deficient females, the germ cells in POG-deficient males eventually populate the seminiferous tubules at 9 wk, and fertility can be achieved by 12 wk.

10. Germ cell depletion 2 (gcd2) is a chemically induced recessive mutation that causes infertility in male and female mice.