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|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.
|Keywords: ||immunoglobulin enhancer|
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 ...|
|Appears in Collections:||Tesi di dottorato in scienze matematiche e fisiche|
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