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MIM.605557 1p36.3

Monday 3 September 2007

PRDM16 is encoding a zinc finger protein with a PR domain that is highly homologous to the MDS1 (MIM.600049)/EVI1 (MIM.165215) genes.


- variant in predisposition to migraine (GWAS) (21666692)

- PRDM16 is located near the breakpoint at 1p36.3, the gene

  • The 3q21-q26 syndrome represents a recurrent translocation, inversion, or insertion between the regions 3q21 and 3q26 and is associated with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML).
  • The disorder is frequently characterized by trilineage dysplasia, in particular dysmegakaryocytopoiesis, and poor prognosis.
  • A similar type of MDS/AML has been reported with the recurrent t(1;3)(p36;q21) translocation. Near the breakpoint at 1p36.3, the gene PRDM16 has been identified, encoding a zinc finger protein with a PR domain that is highly homologous to the MDS1 (MIM.600049)/EVI1 (MIM.165215) genes.

See also



- Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Chasman DI, Schürks M, Anttila V, de Vries B, Schminke U, Launer LJ, Terwindt GM, van den Maagdenberg AM, Fendrich K, Völzke H, Ernst F, Griffiths LR, Buring JE, Kallela M, Freilinger T, Kubisch C, Ridker PM, Palotie A, Ferrari MD, Hoffmann W, Zee RY, Kurth T. Nat Genet. 2011 Jun 12. PMID: 21666692

- Hazourli S, Chagnon P, Sauvageau M, Fetni R, Busque L, Hebert J. Overexpression of PRDM16 in the presence and absence of the RUNX1/PRDM16 fusion gene in myeloid leukemias. Genes Chromosomes Cancer. 2006 Nov;45(11):1072-6. PMID: 16900497

- Bloomfield, C. D.; Garson, O. M.; Volin, L.; Knuutila, S.; de la Chapelle, A. : t(1;3)(p36;q21) in acute nonlymphocytic leukemia: a new cytogenetic-clinicopathologic association. Blood 66: 1409-1413, 1985. PubMed ID : 4063527

- Mochizuki, N.; Shimizu, S.; Nagasawa, T.; Tanaka, H.; Taniwaki, M.; Yokota, J.; Morishita, K. : A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)-positive leukemia cells. Blood 96: 3209-3214, 2000. PubMed ID : 11050005

- Moir, D. J.; Jones, P. A.; Pearson, J.; Duncan, J. R.; Cook, P.; Buckle, V. J. : A new translocation, t(1;3)(p36;q21), in myelodysplastic disorders. Blood 64: 553-555, 1984. PubMed ID : 6743828

- Secker-Walker, L. M.; Mehta, A.; Bain, B. : Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study. Brit. J. Haemat. 91: 490-501, 1995. PubMed ID : 8547101

- Welborn, J. L.; Lewis, J. P.; Jenks, H.; Walling, P. : Diagnostic and prognostic significance of t(1;3)(p36;q21) in the disorders of hematopoiesis. Cancer Genet. Cytogenet. 28: 277-285, 1987. PubMed ID : 3476187