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Somatic hypermutation

Definition
AI-generated

Somatic hypermutation introduces point mutations into immunoglobulin variable regions in activated B cells, coupled with selection for higher-affinity antibodies; sequencing reveals mutation loads and patterns along rearranged V regions after class switch recombination and germinal center reactions.

Topics
Molecular biology Evolutionary genetics
Related
B cell receptor sequencing (BCR-seq) Class switch recombination Clonotype

Why it matters in GWAS

Affinity maturation and isotype usage are downstream of germline immunoglobulin and HLA backgrounds; repertoire-level mutation summaries can stratify individuals for traits associated by GWAS with immune response loci.

Example usage

"We computed the somatic hypermutation rate per clone from BCR-seq reads covering the V segment."

B cell receptor sequencing (BCR-seq) Class switch recombination Clonotype V(D)J sequencing
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References

  • Di Noia JM, Neuberger MS. (2007). Molecular mechanisms of antibody somatic hypermutation. Annu Rev Biochem.
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