Anti-FOXL2 Antibody Picoband® Fluoro647 Conjugated

The forkhead transcription factor gene, FOXL2 located in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) critical region on chromosome 3q23. Consistent with an involvement in BPES, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 haploinsufficiency may cause BPES types I and II by the effect of a null allele and a hypomorphic allele, respectively. Furthermore, in a fraction of the BPES patients the genetic defect does not reside within the coding region of the FOXL2 gene and may be caused by a position effect. FOXL2 mutations can also cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes.

Expressed in peripheral leukocytes with higher expression in CD14-positive phagocytic cells. Highly expressed in keratinocytes and in periphery blood monocytes. Also detected in non-lymphoid tissues including lung and adipose tissues. Found at high levels in colorectal adenocarcinoma, Burkitt's lymphoma and chronic myelogenous leukemia.

DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of retrotransposons. Exhibits antiviral activity against adeno- associated virus (AAV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-stranded DNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclear and mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.

1. Aparicio, S., Chapman, J., Stupka, E., Putnam, N., Chia, J., Dehal, P., Christoffels, A., Rash, S., Hoon, S., Smit, A., Gelpke, M. D. S., Roach, J., and 29 others. Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science 297: 1301-1310, 2002. 2. Benayoun, B. A., Batista, F., Auer, J., Dipietromaria, A., L'Hote, D., De Baere, E., Veitia, R. A. Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations. Hum. Molec. Genet. 18: 632-644, 2009. 3. Benayoun, B. A., Caburet, S., Dipietromaria, A., Bailly-Bechet, M., Batista, F., Fellous, M., Vaiman, D., Veitia, R. A. The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles. Hum. Molec. Genet. 17: 3118-3127, 2008.