What is the consequence of a mutation in the ATM gene, which causes the disorder ataxia telangiectasia?
Explanation
Ataxia telangiectasia is a genetic disorder caused by mutations in the ATM kinase. ATM plays a crucial role in the DNA damage response, including during V(D)J recombination. Its deficiency leads to errors in DNA repair, resulting in immunodeficiency, neurological problems (ataxia), and an increased predisposition to cancer.
Other questions
According to the germline theory for the origin of antibody diversity, how is the vast repertoire of immunoglobulins generated?
In the context of immunoglobulin heavy-chain gene rearrangement, what is the correct sequence of joining events?
According to Figure 5.4, what is the approximate number of functional heavy-chain V (VH) gene segments in the human immunoglobulin locus?
What are the components of a recombination signal sequence (RSS) that guides V(D)J recombination?
What is the '12/23 rule' in the context of V(D)J recombination?
Which pair of proteins are the lymphocyte-specific components of the V(D)J recombinase, essential for initiating the cleavage of DNA at RSSs?
What is the function of the enzyme Terminal deoxynucleotidyl transferase (TdT) during V(D)J recombination?
A complete deficiency in the RAG1, RAG2, DNA-PKcs, or Artemis genes leads to what type of immunodeficiency?
What is the origin of P-nucleotides, which contribute to junctional diversity in antigen receptor genes?
What is a major difference in the organization of the human T-cell receptor alpha (TCR-alpha) locus compared to the immunoglobulin light-chain loci?
What happens to the T-cell receptor delta (TCR-delta) locus when a V-alpha to J-alpha gene rearrangement occurs?
Which two immunoglobulin isotypes are co-expressed on the surface of mature, naive B cells as a result of alternative mRNA splicing?
What molecular mechanism allows a single immunoglobulin heavy-chain gene to produce both a transmembrane receptor and a secreted antibody?
Which immunoglobulin classes can form polymers by interacting with a J chain?
In the lamprey, an agnathan, what is the fundamental structural unit of its variable lymphocyte receptors (VLRs), which are analogous to antibodies?
The evolution of RAG-dependent adaptive immunity is thought to have originated from the invasion of what type of genetic element into an ancestral gene?
In chickens, what is the primary mechanism for diversifying the rearranged immunoglobulin genes after the initial V(D)J recombination event?
What is the function of the protein ZFP318 in B-cell development?
Which statement accurately describes the organization of the heavy-chain locus compared to the light-chain loci in humans?
What is the estimated number of distinct protein isoforms that can be generated from the single Drosophila Dscam gene through alternative splicing?
What is a 'pseudogene' in the context of immunoglobulin loci?
What is the result of a V(D)J rearrangement that leads to a frameshift in the coding sequence?
In the human heavy-chain locus, D gene segments are flanked on both sides by RSSs with 12-bp spacers. What is the equivalent arrangement for D gene segments in the TCR-beta locus?
Which immunoglobulin isotype is the first to be produced during B-cell development and after the activation of a naive B cell?
What is the primary physical form of secreted IgM antibodies?
How many functional Joining (J) gene segments are present in the human TCR-alpha locus?
Which process of diversification is NOT used by T-cell receptors?
In the somatic recombination of VLR genes in the lamprey, what is the proposed mechanism that generates diversity?
What is the typical length of the non-conserved spacer in a recombination signal sequence (RSS)?
After the RAG complex cleaves DNA, what structure is formed at the end of the coding segment?
What is the estimated total number of different antibody specificities that can be generated through combinatorial diversity of heavy and light chains in humans, before considering junctional diversity?
Which immunoglobulin class has an extra constant region domain but lacks a hinge region?
At which human immunoglobulin locus can rearrangement occur by inversion of a DNA segment, rather than just deletion?
In the human TCR-beta locus, how many distinct clusters of D, J, and C gene segments are there?
Which enzyme is responsible for the asymmetric cleavage of the DNA hairpin at coding joints, which can lead to the formation of P-nucleotides?
Which of these is NOT one of the four main processes that generate the diversity of the immunoglobulin repertoire?
What is the consequence for a developing B cell if it undergoes a V(D)J recombination event that incorporates a pseudogene?
What is the primary role of the J chain in the immune system?
In the evolution of adaptive immunity, what are the modern-day descendants of the ancestral transposon's terminal repeats and its transposase gene, respectively?
How many constant region (C) genes for the TCR-alpha chain are present in the human locus?
Which genetic immunodeficiency is characterized by partial V(D)J recombinase activity, an absence of B cells, and infiltration of skin by activated T cells?
When V(D)J recombination occurs between two gene segments in the same transcriptional orientation, what happens to the intervening DNA containing the signal joint?
What is the total length of the heavy-chain locus in the human genome?
Which immunoglobulin isotype is particularly involved in defense at mucosal surfaces?
According to the text, which two enzymes of the nonhomologous end joining (NHEJ) pathway can also add nucleotides in a template-independent manner, besides TdT?
What is the approximate frequency of D-D joining in human heavy chain rearrangements?
Which enzyme's activity is required for both gene conversion and class switching in B cells?
How many functional D gene segments are present in the human TCR-alpha locus?
What is the primary characteristic of the organization of immunoglobulin genes in cartilaginous fish like sharks?