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Genes required for B cell development
Mary Ellen Conley
Mary Ellen Conley
Published December 1, 2003
Citation Information: J Clin Invest. 2003;112(11):1636-1638. https://doi.org/10.1172/JCI20408.
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Commentary

Genes required for B cell development

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Abstract

Mutations in a variety of genes can cause congenital agammaglobulinemia and a failure of B cell development. The currently known genes encode components of the pre–B cell receptor or proteins that are activated by cross-linking of the pre–B cell receptor. Defects in these genes result in a block in B cell differentiation at the pro–B to pre–B cell transition. A patient with a translocation involving a previously unknown gene, LRRC8, demonstrated a block at exactly the same point in B cell differentiation (see the related article beginning on page 1707). It will be interesting to determine whether the protein encoded by this gene interacts with the pre–B cell receptor signal transduction pathway or is involved in a new pathway.

Authors

Mary Ellen Conley

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Figure 2

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(a) Wild-type LRRC8 is an 810–amino acid protein with four transmembrane...
(a) Wild-type LRRC8 is an 810–amino acid protein with four transmembrane domains. Both the amino-terminal and carboxy-terminal ends of this protein are extracellular. The carboxy-terminal end contains nine leucine-rich repeats. (b) The mutant LRRC8, produced as a consequence of a translocation that transected the gene between exon 1 and exon 2, lacks the last two-and-a-half leucine-rich repeats and contains 35 amino acids derived from the intron 1 sequence.

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