Study Notes on Major Histocompatibility Complex (MHC) and Natural Killer (NK) Cells
Lecture 8: MHC Structure, Function, and Genes
Textbook references:
Kuby: Chapters 7 (MHC) and 12 (NK and NKT)
Parham: Components of Chapters 5 and 12 (Figures from Parham unless otherwise indicated)
Learning Objectives
Compare and contrast MHC I, II, and III in mice and humans, including their functions.
Describe the major structural features of MHC I and II.
Describe the prototypical genes in each of the MHC complexes.
Describe the organization and inheritance of MHC genes.
Describe prototypical and secondary MHC genes.
Describe how MHC interacts with target cells.
MHC Critical Role in Antigen Presentation
Basic Steps:
Pathogen protein enters a human cell.
Antigen processing occurs via the breakdown of the protein.
Presentation of peptide occurs by MHC molecules.
Recognition of the antigen:MHC complex by T-cell receptor (TCR).
Major Histocompatibility Complex (MHC)
Definition: A cluster of genes located on a single chromosome (chromosome 6 in humans, chromosome 17 in mice) coding for cell-surface molecules that present antigens to T cells and immune proteins.
Functions:
Present antigens to T cells.
Engage NK cells via self vs. missing self recognition.
Alternate Names: Human Leukocyte Antigens (HLA) in humans and H2 complex in mice.
Classes of MHC:
Class I
Class II
Class III
Chromosomal Location:
Class I: Chromosome 17
Class II: Chromosome 6
MHC III Complex
Function: Does NOT present antigens (unlike MHC I and II).
Encodes:
Complement proteins.
Inflammatory mediators such as TNF and lymphotoxin.
Types of MHC
Three types exist (MHC I, II, and III), but only MHC I and II present antigens.
MHC I and II Expression by Cell Type
Expression Levels:
Hematopoietic Cells:
T cells: Class I (+++), Class II (+)
B cells: Class I (+++), Class II (+++)
Macrophages: Class I (+++), Class II (++)
Dendritic cells: Class I (+++), Class II (+++)
Neutrophils: Class I (+++), Class II (-)
Erythrocytes: Class I (+++), Class II (-)
Non-Hematopoietic Cells:
Liver hepatocytes: Class I (+), Class II (-)
Kidney epithelium: Class I (+), Class II (-)
Brain: Class I (+), Class II (-)
MHC Peptide Presentation
MHC I:
Presents peptides derived from within the cell (i.e., endogenous).
MHC II:
Presents peptides derived from outside the cell (i.e., exogenous).
Cross-Presentation:
Occasionally, peptides can be cross-presented from outside the cell on MHC I.
MHC I Structure and Components
Overview:
MHC I consists of a peptide nestled between alpha-helices and requires beta-2-microglobulin for stabilization.
Conserved Regions:
Transmembrane Domain:
45 kDa α chain peptide linked noncovalently to a 12 kDa β2 microglobulin molecule.
Organized into 3 globular domains (external), a hydrophobic sequence (membrane anchor), and a short hydrophilic sequence (cytoplasmic).
α3 Domain:
Highly conserved; interacts noncovalently with β2 microglobulin and the CD8 co-receptor on CTLs.
β2m (Beta-2-microglobulin):
Interacts with α3 domain, stabilizing MHC I complexes.
MHC II Function and Structure
Function:
Presents antigens derived from the extracellular/exogenous compartment to CD4+ T cells.
Located on professional antigen-presenting cells (APCs) such as dendritic cells, macrophages, and B cells.
Structure:
Composed of two glycoprotein chains (α - 33 kDa and β - 28 kDa).
Comprised of 2 external globular domains, one hydrophobic membrane anchor, and one hydrophilic cytoplasmic tail.
Variable regions: α1 and β1 form the antigen/peptide-binding groove.
Peptides are typically 13-18 amino acids long and protrude from the binding groove.
Conserved regions: α2 and β2 are relatively conserved among MHC II molecules.
MHC Peptide Binding Dynamics
Table 7-1: Peptide Binding by MHC Class I and II Molecules
Peptide-binding domain
Nature of Peptide-binding
General Size of Bound Peptides
Anchor Residues
Nature of Bound Peptide
Class I (α1/a2)
Closed at both ends
8-10 amino acids
Anchor residues at both ends of peptide; generally hydrophobic at carboxy-terminus
Extended structure where both ends interact with MHC groove but middle arches up from MHC molecule
Class II (α1/β1)
Open at both ends
13-18 amino acids
Conserved residues distributed along the peptide anchor
Extended structure that is held above the MHC groove floor.
MHC Gene Inheritance and Polymorphism
Haplotypes:
Genes arranged in haplotypes influence co-inheritance patterns; genes closer together are more likely to be inherited together.
MHC Polymorphism:
MHC is the most polymorphic gene in the human genome.
Influences T cell repertoire diversity and the likelihood of transplantation rejection reactions.
Polymorphism ensures diversity in peptide presentation and enables populations to respond to a larger variety of pathogens.
Heterozygote Advantage:
Increases antigen presentation likelihood via multiple alleles at MHC loci.
MHC and Disease Susceptibility
A reduction in MHC polymorphism may predispose species to disease by limiting interaction range with processed antigens.
Some MHC alleles might provide binding sites for pathogens, affecting immune response efficacy.
Variations in antigen presentation across MHC alleles can determine susceptibility to diseases, including autoimmune disorders.
NK Cells Overview
Definition: Natural Killer (NK) cells are nonspecific cytotoxic effector cells making up 5-10% of peripheral blood lymphocytes; they are essential in early defenses against viruses and cancers.
Development: NK cells develop from the same progenitors as T cells but do not exclusively mature in the thymus.
Recognition Mechanism:
Lacks MHC restriction; can exhibit immunologic memory.
Crucial source of IFN-γ, enhancing macrophage activity and influencing adaptive immunity by promoting Th1 differentiation and CTL development.
NK Cell Functions and Mechanisms of Action
Cytotoxic Mechanism:
Polarization of cytotoxic granules towards the target cell leads to exocytosis of granzyme B and perforin after triggering via activating receptors.
Triggering of death receptors on target cells can lead to apoptosis.
Cytokine Activation: IFN-α and IFN-β activate NK cells, augmenting antiviral activity.
Interaction Between T Cells and NK Cells
T cells and NK mediated cytotoxicity have complementary roles in immune responses.
Missing Self Recognition:
Target cells with low MHC class I expression are killed by NK cells.
NK cells see a lack of MHC/HLA as a trigger for activation, while normal MHC expression inhibits NK cell activity.
MHC and NK Cell Interactions
NK cells bind to conserved epitopes found in HLA (MHC) and react to allosteric changes from bound peptides rather than specific antigen binding.
Variability in HLA leads to different responses from NK cells due to their multiple KIRs allowing them to recognize numerous HLA variants.
Non-Classical MHC Molecules
Class I:
Reduced expression specific to certain tissues (e.g., HLA-G for fetal tolerance).
HLA-E facilitates NK cell interactions.
Class II:
Less polymorphic; functions primarily in peptide loading assistance and antigen presentation regulation (e.g., HLA-DM).
Conclusion
The complex structure, diversity, and function of the MHC are critical for effective immune responses, influencing susceptibility to disease and the interplay between various immune cell types.
MHC polymorphism offers a safeguard against pathogen evasion, maintaining robust immune surveillance.