diagram in the first figure shows simplified versions of the immunoglobulin heavy chain locus, the T-cell receptor b chain locus, and the locus encoding the RAG-1 and RAG-2 recombinases. For the sake of this question, imagine that these diagrams represent all of the gene segments present in the immunoglobulin heavy chain and T-cell receptor b chain locus.  You now analyze five individuals, each of which has a single inactivating mutation in a region of one of these three loci. These mutations are each indicated by a red ‘X’ in the second figure, and are numbered 1–5. For each of these inactivating mutations, indicate the alterations and/or defects

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The diagram in the first figure shows simplified versions of the immunoglobulin heavy chain locus, the T-cell receptor b chain locus, and the locus encoding the RAG-1 and RAG-2 recombinases. For the sake of this question, imagine that these diagrams represent all of the gene segments present in the immunoglobulin heavy chain and T-cell receptor b chain locus. 

You now analyze five individuals, each of which has a single inactivating mutation in a region of one of these three loci. These mutations are each indicated by a red ‘X’ in the second figure, and are numbered 1–5. For each of these inactivating mutations, indicate the alterations and/or defects that would be seen in the repertoire of antigen receptors found in mature B and T cells in that individual. Also, for each mutation, indicate whether the individual would likely show any immunodeficiency, such as a history of recurrent infections.

RSS with 12-nt spacer
#F
V
VH¹
Immunoglobulin heavy chain locus (IgH)
V
VH2
RSS with 23-nt spacer
V
Vp1 V₂2
V43
V
V₂3
RAG-1
DH¹
T-cell receptor & locus
Dp1
RAG-1/2 locus
RAG-2
JH1
442
J
Jp1 Jp2
at
HE
Transcribed Image Text:RSS with 12-nt spacer #F V VH¹ Immunoglobulin heavy chain locus (IgH) V VH2 RSS with 23-nt spacer V Vp1 V₂2 V43 V V₂3 RAG-1 DH¹ T-cell receptor & locus Dp1 RAG-1/2 locus RAG-2 JH1 442 J Jp1 Jp2 at HE
RSS with
12-nt spacer
캬
V
V₂1
V4²
RSS with
23-nt spacer
VV
Immunoglobulin heavy chain locus (IgH)
V
V₁3
RAG-1
Dμ1
T-cell receptor & locus
3
X
D₂1
RAG-1/2 locus
5
small deletions or
inactivating point mutations
RAG-2
Jμ1
2
X
2 يول
Jp1 №₂2
HE
Transcribed Image Text:RSS with 12-nt spacer 캬 V V₂1 V4² RSS with 23-nt spacer VV Immunoglobulin heavy chain locus (IgH) V V₁3 RAG-1 Dμ1 T-cell receptor & locus 3 X D₂1 RAG-1/2 locus 5 small deletions or inactivating point mutations RAG-2 Jμ1 2 X 2 يول Jp1 №₂2 HE
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