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Pfeifer Lab: Section on Genomic Imprinting

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Overview

The Section on Genomic Imprinting, led by Karl Pfeifer, examines the regulated expression and the biological functions of a cluster of imprinted genes on the distal end of mouse chromosome 7. Imprinting is an unusual form of gene regulation in which expression of a gene depends on parental-specific epigenetic modifications of the chromosome. Imprinted loci are an excellent model system for studying how epigenetic mechanisms regulate development and how developmental processes establish the epigenome. The group identified and characterized a 2.4 kb element that organizes higher-order chromosomal structures and long-range DNA interactions across a 120 kb region. Current work focuses on the role of non-coding RNAs in establishing these chromosomal structures. The group establishes mouse models for human diseases associated with genetic lesions in the region. Current studies focus on conditional gain of function and conditional loss of function of the cardiac calsequestrin 2 gene.

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Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012

Contact Information

Name: Dr Karl Pfeifer
Senior Investigator
Section on Genomic Imprinting
Phone: 301-451-2017
Fax: 301-402-0543
Email: kpfeifer@helix.nih.gov.

Staff Directory
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology