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Please use this identifier to cite or link to this item: http://hdl.handle.net/2108/378

Title: Polymorphisms and DNA methylation: two ways for functional differences in the 3' regulatory region of the IgH locus
Authors: Frezza, Domenico
Birshtei, Barbara K.
Giambra, Vincenzo
Keywords: immunoglobulin enhancer
DNA methylation
class switching recombination
Issue Date: 21-Dec-2007
Abstract: The IgH locus in mouse and human has a 3' regulatory region (3'RR) with multiple DNaseI hypersensitive sites. In the human, but not in the mouse, the sites (HS3, HS1.2 and HS4) are duplicated. One unit is downstream of the Cα-1 gene and a second unit is downstream of the Cα-2 gene. Human HS1,2 enhancers show polymorphic features. In the mouse, HS3A, HS1.2, HS3B and HS4 are enhancers involved in the expression and class switching of immunoglobulin heavy chain genes. A recently identified downstream region, which contains hypersensitive sites HS5, HS6 and HS7, has been hypothesized to serve as an insulator of the Igh locus. This downstream region is associated with marks of active chromatin throughout B cell development and contains binding sites for CTCF, a protein associated with mammalian insulators. CTCF binding to many of its cognate DNA sites is prevented by DNA methylation. Previous studies using genomic Southern analysis have shown changes in DNA methylation in the ...
URI: http://hdl.handle.net/2108/378
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