Biology:PHF6
 Generic protein structure example |
PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.[1][2]
This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two atypical PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus.[2]
Mutations
Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Börjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[2]
The PHF6 gene in humans is also frequently mutated in human hematological malignancies, including T-cell acute lymphoblastic Leukemia (T-ALL)[3] and Acute Myeloid Leukemia (AML)[4] and at least two BFLS patients have developed leukemia or lymphoma.[5] PHF6 has been shown to be important for the regulation of blood stem and progenitor cells[6][7][8][9] and loss of PHF6 protein synergizes with over-expression of the TLX3 protein to cause lymphoid neoplasms.[7]
References
- ↑ "Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome". Nature Genetics 32 (4): 661–5. December 2002. doi:10.1038/ng1040. PMID 12415272.
- ↑ 2.0 2.1 2.2 "Entrez Gene: PHF6 PHD finger protein 6". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84295.
- ↑ "PHF6 mutations in T-cell acute lymphoblastic leukemia". Nature Genetics 42 (4): 338–42. April 2010. doi:10.1038/ng.542. PMID 20228800.
- ↑ "PHF6 mutations in adult acute myeloid leukemia". Leukemia 25 (1): 130–4. January 2011. doi:10.1038/leu.2010.247. PMID 21030981.
- ↑ "T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6". Pediatric Blood & Cancer 55 (4): 722–4. October 2010. doi:10.1002/pbc.22574. PMID 20806366.
- ↑ "Phf6 Loss Enhances HSC Self-Renewal Driving Tumor Initiation and Leukemia Stem Cell Activity in T-ALL". Cancer Discovery 9 (3): 436–451. March 2019. doi:10.1158/2159-8290.CD-18-1005. PMID 30567843.
- ↑ 7.0 7.1 "PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia". Blood 133 (16): 1729–1741. April 2019. doi:10.1182/blood-2018-07-860726. PMID 30755422.
- ↑ "The chromatin-binding protein Phf6 restricts the self-renewal of hematopoietic stem cells". Blood 133 (23): 2495–2506. June 2019. doi:10.1182/blood.2019000468. PMID 30917958. https://ashpublications.org/blood/article/133/23/2495/273845/The-chromatin-binding-protein-Phf6-restricts-the.
- ↑ "Phf6-null hematopoietic stem cells have enhanced self-renewal capacity and oncogenic potentials". Blood Advances 3 (15): 2355–2367. August 2019. doi:10.1182/bloodadvances.2019000391. PMID 31395598.
Further reading
- "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 8 (2): 85–95. April 2001. doi:10.1093/dnares/8.2.85. PMID 11347906.
- "Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome". Journal of Medical Genetics 40 (4): 50e–50. April 2003. doi:10.1136/jmg.40.4.e50. PMID 12676923.
- "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". Journal of Pediatric Endocrinology & Metabolism 16 (9): 1207–9. December 2003. doi:10.1515/jpem.2003.16.9.1207. PMID 14714741.
- "Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency". Journal of Pediatric Endocrinology & Metabolism 16 (9): 1295–300. December 2003. doi:10.1515/jpem.2003.16.9.1295. PMID 14714754.
- "The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations". Clinical Genetics 65 (3): 226–32. March 2004. doi:10.1111/j.0009-9163.2004.00215.x. PMID 14756673.
- "1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family". European Journal of Human Genetics 12 (10): 787–9. October 2004. doi:10.1038/sj.ejhg.5201228. PMID 15241480.
- "A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome". Journal of Medical Genetics 41 (10): 778–83. October 2004. doi:10.1136/jmg.2004.020370. PMID 15466013.
- "Nucleolar proteome dynamics". Nature 433 (7021): 77–83. January 2005. doi:10.1038/nature03207. PMID 15635413. Bibcode: 2005Natur.433...77A.
- "Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient". Journal of Medical Genetics 43 (3): 238–43. March 2006. doi:10.1136/jmg.2005.033084. PMID 15994862.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. November 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
External links
- PHF6+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 |  |
