BBX (gene)
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HMG box transcription factor BBX also known as bobby sox homolog or HMG box-containing protein 2 is a
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''BBX''
gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.


Model organisms

Model organism A model organism (often shortened to model) is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workin ...
s have been used in the study of BBX function. A conditional
knockout mouse A knockout mouse, or knock-out mouse, is a genetically modified mouse (''Mus musculus'') in which researchers have inactivated, or "knocked out", an existing gene by replacing it or disrupting it with an artificial piece of DNA. They are importan ...
line, called ''Bbxtm1a(EUCOMM)Wtsi'' was generated as part of the
International Knockout Mouse Consortium The International Knockout Mouse Consortium (IKMC) is a scientific endeavour to produce a collection of mouse embryonic stem cell lines that together lack every gene in the genome, and then to distribute the cells to scientific researchers to cr ...
program, a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Male and female animals underwent a standardized
phenotypic screen In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological prop ...
to determine the effects of deletion. Twenty six tests were carried out on
homozygous Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Mo ...
mutant In biology, and especially in genetics, a mutant is an organism or a new genetic character arising or resulting from an instance of mutation, which is generally an alteration of the DNA sequence of the genome or chromosome of an organism. It ...
adult mice and four significant abnormalities were observed. A study of body composition found decreases in
bone mineral Bone mineral (also called inorganic bone phase, bone salt, or bone apatite) is the inorganic component of bone tissue. It gives bones their compressive strength. Bone mineral is formed predominantly from carbonated hydroxyapatite with lower cry ...
density and content, and a reduction in body length in female mice, while mutants of both sexes showed a reduction in
lean body mass Lean body mass (LBM), sometimes conflated with ''fat-free mass'', is a component of body composition. Fat free mass (FFM) is calculated by subtracting body fat weight from total body weight: total body weight is lean plus fat. In equations: :LBM&n ...
. Radiography found that males had abnormal teeth morphology. Females had a decreased heart weight, and both sexes had reduced
IgA Iga may refer to: Arts and entertainment * Ambush at Iga Pass, a 1958 Japanese film * Iga no Kagemaru, Japanese manga series * Iga, a set of characters from the Japanese novel '' The Kouga Ninja Scrolls'' Biology * ''Iga'' (beetle), a g ...
levels in their plasma.


References


External links

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Further reading

* * * * * * Transcription factors Genes mutated in mice {{gene-3-stub