BAZ1B
Encyclopedia
Tyrosine-protein kinase BAZ1B is an enzyme
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

 that in humans is encoded by the BAZ1B gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

.

Animal models

Model organism
Model organism
A model organism is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the organism model will provide insight into the workings of other organisms. Model organisms are in vivo models and are widely used to...

s have been used in the study of BAZ1B function. A conditional
Conditional gene knockout
Conditional gene knockout is a relatively new technique, an offshoot of gene knockout technology with the exception that a specific target gene is eliminated from a single organ in the body rather than the whole body as gene knockout technology would entail...

 knockout mouse
Knockout mouse
A knockout mouse is a genetically engineered mouse in which researchers have inactivated, or "knocked out," an existing gene by replacing it or disrupting it with an artificial piece of DNA...

 line, called Baz1btm2a(KOMP)Wtsi, was generated as part of the International Knockout Mouse Consortium
International Knockout Mouse Consortium
The International Knockout Mouse Consortium 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 create knockout mice to study...

 program — a high-throughput mutagenesis
Mutagenesis
Mutagenesis is a process by which the genetic information of an organism is changed in a stable manner, resulting in a mutation. It may occur spontaneously in nature, or as a result of exposure to mutagens. It can also be achieved experimentally using laboratory procedures...

 project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.


Six significant phenotypes were reported:
  • Less homozygous mutant mice survived to weaning
    Weaning
    Weaning is the process of gradually introducing a mammal infant, either human or animal, to what will be its adult diet and withdrawing the supply of its mother's milk.The process takes place only in mammals, as only mammals produce milk...

     than expected.
  • Mutant
    Mutant
    In biology and especially genetics, a mutant is an individual, organism, or new genetic character, arising or resulting from an instance of mutation, which is a base-pair sequence change within the DNA of a gene or chromosome of an organism resulting in the creation of a new character or trait not...

     mice had decreased body weight
    Body weight
    The term body weight is used in daily English speech as well as in the contexts of biological and medical sciences to describe the mass of an organism's body. Body weight is measured in kilograms throughout the world, although in some countries it is still measured in pounds or stones and pounds...

    s compared to wildtype control mice.
  • Mutant mice showed increased activity, VO2 and energy expenditure, determined by indirect calorimetry.
  • Radiography found teeth abnormalities.
  • Dual-energy X-ray absorptiometry (DEXA) showed mutant female mice had a decrease in bone mineral
    Bone mineral
    Bone mineral is the inorganic component of bone. Bone mineral is formed from carbonated hydroxyapatite with lower crystallinity....

     density and content.
  • Male heterozygous mice had higher bacterial counts after Salmonella
    Salmonella
    Salmonella is a genus of rod-shaped, Gram-negative, non-spore-forming, predominantly motile enterobacteria with diameters around 0.7 to 1.5 µm, lengths from 2 to 5 µm, and flagella which grade in all directions . They are chemoorganotrophs, obtaining their energy from oxidation and reduction...

    infection.

Interactions

BAZ1B has been shown to interact with CHAF1A
CHAF1A
Chromatin assembly factor 1 subunit A is a protein that in humans is encoded by the CHAF1A gene.-Interactions:CHAF1A has been shown to interact with ASF1B, ASF1A, MBD1, Bloom syndrome protein and CBX5.-Further reading:...

, TOP2B
TOP2B
DNA topoisomerase 2-beta is an enzyme that in humans is encoded by the TOP2B gene.-Interactions:TOP2B has been shown to interact with BAZ1B, HDAC1, Histone deacetylase 2, T-cell surface glycoprotein CD3 epsilon chain, Small ubiquitin-related modifier 1 and P53.-Further reading:...

, SMARCC2
SMARCC2
SWI/SNF complex subunit SMARCC2 is a protein that in humans is encoded by the SMARCC2 gene.-Interactions:SMARCC2 has been shown to interact with BAZ1B and SMARCA4.-External links:...

, SMARCC1
SMARCC1
SWI/SNF complex subunit SMARCC1 is a protein that in humans is encoded by the SMARCC1 gene.-Interactions:SMARCC1 has been shown to interact with BAZ1B, SIN3A, SMARCA2, ING1, SMARCB1 and SMARCA4.-External links:...

, SMARCB1
SMARCB1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene.-Interactions:...

, SUPT16H
SUPT16H
FACT complex subunit SPT16 is a protein that in humans is encoded by the SUPT16H gene.-Further reading:...

 and Calcitriol receptor
Calcitriol receptor
The calcitriol receptor, also known as the vitamin D receptor and also known as NR1I1 , is a member of the nuclear receptor family of transcription factors...

.

Further reading

External links

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