HLA-DRB1

HLA-DRB1

Major histocompatibility complex, class II, DR beta 1, also known as HLA-DRB1, is a human gene.cite web | title = Entrez Gene: HLA-DRB1 major histocompatibility complex, class II, DR beta 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3123| accessdate = ] DRB1 encodes the the most prevalent beta subunit of HLA-DR.

Function

The protein encoded by this gene belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages).

Gene struture and polymorphisms

The beta chain is approximately 26-28 kDa. It is encoded by 6 exons, exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation.

Gene expression

DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9.

ee also

* HLA-DR

References

Further reading

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citations =
*cite journal | author=Turesson C, Matteson EL |title=Genetics of rheumatoid arthritis. |journal=Mayo Clin. Proc. |volume=81 |issue= 1 |pages= 94–101 |year= 2006 |pmid= 16438485 |doi=
*cite journal | author=Ahmad T, Marshall SE, Jewell D |title=Genetics of inflammatory bowel disease: the role of the HLA complex. |journal=World J. Gastroenterol. |volume=12 |issue= 23 |pages= 3628–35 |year= 2006 |pmid= 16773677 |doi=
*cite journal | author=Schmidt H, Williamson D, Ashley-Koch A |title=HLA-DR15 haplotype and multiple sclerosis: a HuGE review. |journal=Am. J. Epidemiol. |volume=165 |issue= 10 |pages= 1097–109 |year= 2007 |pmid= 17329717 |doi= 10.1093/aje/kwk118

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