- Annual Report
- Position Available
- Office: 301-451-2017
- Lab: 301-402-0676
Karl Pfeifer in the Section on Genomic Imprinting examines the regulated expression and the biological functions of a cluster of imprinted genes on the distal end of mouse chromosome 7. The human equivalent on chromosome 11p15.5 is clinically of great importance as mutations in the region are associated with Beckwith Wiedemann syndrome, with several types of childhood and adult cancers, and with inherited cardiac arrhythmias.
Our goal is to understand how these genes are regulated during normal development and how mutation of these genes and disruption of their imprinted expression patterns can lead to human disease. To this end, our research is focused in three areas. First, we want to learn how the epigenome is established during germ cell development and then modified as cells divide and differentiate. Second, we want to understand how the epigenetic marks interact with the cellular transcriptional machinery to establish and maintain the gene expression patterns that are essential for normal development. Finally, we want to establish mouse models for human diseases associated with this region and to use these models to develop novel therapies. Our research is all genetic based and uses mouse models and primary cell lines developed from these mutant strains.
- Dey, BK, K Pfeifer, and A Dutta. The H19 long non-coding RNA gives rise to microRNAs miR-675-3p and -5p to promote muscle differentiation and regeneration (2014) Genes & Development 28:491501. PMID 24532688.
- Eun, B, ML Sampley, MT Van Winkle, AL Good, MM Kachman, and K Pfeifer. The Igf2/H19 muscle enhancer is an active transcriptional complex (2013) Nucleic Acids Research 41:8126-34. PMID: 23842673.
- Leikina, E, K Melikov, S Sanval, SK Verma, B Eun, C Gebert, K Pfeifer, V Lizunov, M Kozlov, LV Chernomordik. Extracellular annexins and dynamin are important for sequential steps in myoblast fusion (2013) J Cell Biol 200:109-23. PMID: 23277424.
- Eun, B, ML Sampley, AL Good, CM Gebert, and K Pfeifer. Promoter cross-talk via a shared enhancer explains paternally biased expression of Nctc1 at the Igf2/H19/Nctc1 locus (2013) Nucleic Acids Research 41:817-26. PMID 23221643.
- Shrimali, S, Srivastava, G Varma, A Grinberg, K Pfeifer, and M Srivastava. An ectopic CTCF dependent transcriptional insulator influences the choice of V beta gene segments on VDJ recombination at the TCR beta locus. (2012) Nucleic Acids Research 40: 7753-65. PMID 22718969.
- Xia, J, N Varudkar, C Baker, I Abukenda, C Martinez, A Natarajan, A Grinberg, K Pfeifer, and SN Ebert. Targeting of the Enhanced Green Fluorescent Protein Reporter to Adrenergic Cells in Mice. (2012) Mol Biotechnology 54:350-60. PMID: 22706789
- Shrimali, D, S Srivastava, G Varma, A Grinberg, K Pfeifer, and M Srivastava. An ectopic CTCF-dependent transcriptional insulator influences the choice of Vb gene segments on VDJ recombination at the TCR b locus (2012) Nucleic Acids Research 40: 7753-65. PMID: 27718969.
- Jeong, S, H Yu, and K Pfeifer (2012) Accurate measurement of the relative abundance of different DNA species in complex DNA mixtures (2012) DNA Research 19: 2209-17. PMID: 22334570.
- Cunningham, MD, J Kassis, and K Pfeifer Chromatin modifiers, cognitive disorders, and imprinted genes. (2010) Dev Cell: 18: 169-70. PMID: 20159587
- Gebert, C, D Kunkel, A Grinberg, and K Pfeifer H19 Imprinting Control Region methylation requires an imprinted environment only in the male germ line. (2010) Mol Cell Biol: 30: 1108-15. PMID: 20038532
- Yoon YS, Jeong S, Rong Q, Park KY, Chung JH, Pfeifer K Analysis of the H19ICR insulator. Mol Cell Biol. 2007 May; 27(9):3499-510. PMID: 17339341
- Jeong S, Hahn Y, Rong Q,Pfeifer K Accurate quantitation of allele-specific expression patterns by analysis of DNA melting. (2007) Genome Res. 2007 Jul; 17(7):1093-1100. PMID: 17545578
- Knollmann, BC, N Chopra, T Hlaing, B Akin, T Yang, K Ettensohn, BEC Knollmann, K D Horton, NJ Weissman, I Holinstat, W Zhang, DM Roden, LR Jones, C Franzini-Armstrong, and K Pfeifer Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia (2006). J Clinical Investigations, 116: 2510-2520. PMID: 16932808