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Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

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Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
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Published on: February 24, 2014

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

M Vihinen1, O Brandau, L J Brandén

  • 1Department of Biosciences, Division of Biochemistry, PO Box 56, FIN-00014 University of Helsinki, Finland. mauno.vihinen@helsinki.fi

Nucleic Acids Research
|February 21, 1998
PubMed
Summary

X-linked agammaglobulinemia (XLA) is an immunodeficiency linked to Bruton's agammaglobulinemia tyrosine kinase (BTK) gene mutations. BTKbase now catalogs 463 mutations from 406 families, detailing phenotypes and structural impacts.

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Area of Science:

  • Immunology
  • Genetics
  • Biochemistry

Background:

  • X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder.
  • It results from mutations in the Bruton's agammaglobulinemia tyrosine kinase (BTK) gene.
  • Understanding BTK mutations is crucial for diagnosing and potentially treating XLA.

Purpose of the Study:

  • To update and enhance the BTKbase database with new mutation entries and features.
  • To provide a comprehensive resource for researchers studying BTK mutations and XLA.
  • To catalog disease phenotypes associated with specific BTK mutations.

Main Methods:

  • Compilation and curation of mutation data from scientific literature and clinical reports.
  • Inclusion of genetic variants, polymorphisms, and associated patient phenotypes.
  • Analysis of mutation distribution across BTK domains and identification of common mutation types (e.g., missense).

Main Results:

  • The updated BTKbase contains 463 mutation entries from 406 families, representing 303 unique molecular events.
  • Mutations affect all five domains of BTK, with missense mutations being the most common.
  • The database includes information on patient phenotypes and putative structural implications of missense mutations.

Conclusions:

  • BTKbase serves as a valuable, updated resource for XLA research.
  • The comprehensive data aids in understanding the genotype-phenotype correlations in XLA.
  • The database facilitates further investigation into the structural and functional consequences of BTK mutations.