| 1. |
- Schaafsma, Gerard C. P., et al.
(författare)
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Genetic Variation in Bruton Tyrosine Kinase
- 2015
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Ingår i: Agammaglobulinemia. - Cham : Springer International Publishing. - 9783319227146 ; , s. 75-85
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Bokkapitel (refereegranskat)abstract
- X-linked agammaglobulinemia (XLA) is a hereditary immunodeficiency caused by variations in the gene encoding for Bruton's tyrosine kinase (BTK). Patients with XLA have decreased numbers of mature B cells, lack all immunoglobulin isotypes, and therefore have susceptibility to severe bacterial infections. XLA-causing variations are collected into BTKbase freely available at http://structure.bmc.lu.se/idbase/BTKbase/. Details of the variations are provided at DNA, RNA, and protein levels, using standardized systematic names and a plain English description. In addition, clinical details from the patients are provided when available. BTKbase contains variation entries for 1362 patients from 1198 unrelated families altogether for 742 unique molecular events. The localization of the variations on the gene and protein for BTK can be analyzed by clicking sequences on web pages. The distribution of the variations in the five structural domains is approximately according to the length of the domains, except for the TH and SH3 domains. The most frequently affected sites are CpG dinucleotides. The majority of the amino acid substitutions are structural affecting protein fold or stability. Detailed statistics is provided highlighting variation types, affected domains, exons and introns, as well as structural consequences.
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| 2. |
- Vihinen, Mauno, et al.
(författare)
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Contribution of pseudogenes to sequence diversity.
- 2014
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Ingår i: Pseudogenes. Functions and Protocols.. - New York, NY : Springer New York. - 9781493908356 ; , s. 15-24
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Bokkapitel (refereegranskat)abstract
- Pseudogenes are very common in the genomes of a wide range of organisms and, although they were originally considered as genetic junk, now several functions have been attributed to them. One important function of pseudogenes, as discussed in this chapter, is to provide material for genetic diversity. This is most prominent in the case of immunological recognition molecules such as immunoglobulins and B- and T-cell receptors, as well as in the case of antigenic variation in intracellular pathogens. Other examples discussed are olfactory receptors, ribosomal proteins, cytochrome P450s, and pseudokinases.
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