A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein.

ABSTRACT:

Background

The Butyrophilin-like (BTNL) proteins are likely to play an important role in inflammation and immune response. Like the B7 protein family, many human and murine BTNL members have been shown to control T lymphocytes response, and polymorphisms in human BTNL2 have been linked to several inflammatory diseases, such as pulmonary sarcoidosis, inflammatory bowel disease and neonatal lupus.

Results

In this study we provide a comprehensive population, genomic and transcriptomic analysis of a 56-kb deletion copy number variant (CNV), located within two segmental duplications of two genes belonging to the BTNL family, namely BTNL8 and BTNL3. We confirm the presence of a novel BTNL8*3 fusion-protein product, and show an influence of the deletion variant on the expression le

SUBMITTER: Aigner J 

PROVIDER: S-EPMC3729544 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature