An altered splice site is found in the DRB4 gene that is not expressed in HLA-DR7,Dw11 individuals

Immunogenetics
V R SuttonR W Knowles

Abstract

The HLA-DR beta protein, DR beta IV, encoded by the DRB4 gene, is found on class II+ cells of all DR4, DR9, and most DR7 individuals. However, in some DR7 individuals (DR7,Dw11), the DR beta IV protein cannot be detected. To investigate the molecular mechanism responsible for this defect in expression, two overlapping genomic clones encoding the defective DRB4 allele (DRB4-null) were isolated. Although restriction fragment length analysis demonstrated no obvious alterations in the DRB4-null gene, nucleotide sequence analysis revealed a single base substitution in the acceptor splice site at the 3' end of the first intron, changing the normal AG dinucleotide to AA. The nucleotide sequences of all the exons and remaining splice junctions were identical to those of the normal DRB4 gene. The effect of the altered splice junction was evident from RNA blot analysis where inactivation of the normal splice site was found to result in a larger than normal DRB4 gene transcript. Thus, defective expression of the DR beta IV protein results from incorrect processing of the mRNA from the DRB4-null allele.

References

Jan 1, 1985·International Review of Cytology·J H Rogers
Jan 1, 1986·Annual Review of Biochemistry·R A PadgettP A Sharp
Jul 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·J A YoungJ Trowsdale
Aug 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·T SpiesJ L Strominger
Jan 1, 1984·Annual Review of Genetics·S H Orkin, H H Kazazian
Aug 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·J M Boss, J L Strominger
Dec 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·D LarhammarP A Peterson
Jan 1, 1981·Annual Review of Biochemistry·R Breathnach, P Chambon
Jan 22, 1982·Nucleic Acids Research·S M Mount

❮ Previous
Next ❯

Citations

Sep 1, 1994·Human Immunology·J G BodmerT Sasazuki
Mar 27, 2001·Transplantation Proceedings·R A Bray, H M Gebel
Apr 15, 1999·Tissue Antigens·M D CurranD Middleton
Mar 7, 2000·Tissue Antigens·C E VoorterE M van den Berg-Loonen
Apr 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·M D ChangB Diamond
Feb 25, 1990·Nucleic Acids Research·O G SeguradoA Arnaiz-Villena
Jun 30, 2010·Rheumatology·Robby EngelmannBrigitte Mueller-Hilke
Feb 12, 1998·Transplantation·M BunceK I Welsh
Jul 1, 1994·Tissue Antigens·J G BodmerT Sasazuki
Jun 1, 1997·Tissue Antigens·C E VoorterE M van den Berg-Loonen
Nov 5, 1998·Tissue Antigens·F WilliamsD Middleton
Jan 25, 2005·Tissue Antigens·C E M VoorterE M van den Berg-Loonen
Jan 1, 1994·Vox Sanguinis·J G BodmerT Sasazuki
Oct 1, 1991·European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics·J M HeyesJ G Bodmer
Dec 1, 1994·European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics·J G BodmerT Sasazuki
Jan 1, 1999·Cytotherapy·F PoliG Sirchia
Mar 25, 2019·HLA : Immune Response Genetics·Lihua HouCarolyn Katovich Hurley
Mar 22, 2019·HLA : Immune Response Genetics·Cristina Abad-MolinaAntonio Orduña-Domingo
Mar 11, 2000·British Journal of Nursing : BJN·E DurmazS Carruthers
Apr 25, 2008·Current Protocols in Immunology·C K Hurley, A H Johnson
Oct 3, 2019·HLA : Immune Response Genetics·Daniel FuerstJoannis Mytilineos
Dec 12, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·Y WatanabeP Parham
Feb 12, 1998·Tissue Antigens·P Parham
Apr 21, 2020·Human Immunology·Carolyn Katovich Hurley

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.