User:Carbon1277/sandbox

BTBD9 is a human gene located at chr6: 38,136,227-38,607,924.

BTBD9 encodes a protein that is in a subgroup of BTB(POZ) proteins, which contribute to the forming of limbs and determination of cell fate in developing Drosophila melanogaster.[1] BTB(POZ) proteins also play a role in cellular functions such as: cytoskeleton regulation, transcription regulation, the gating and assembly of ion channels, and ubiquitination of proteins. BTBD9 is highly expressed throughout the brain and shows variable levels of expression in most other body tissues.[2]. I plan on expanding this area regarding The gene itself and inserting a Chimera module of the gene possibly highlighting the area of the gene which leads to restless leg syndrome when mutated.

The gene is located on the short arm of chromosome 6. This domain is understood to contain genes encoding protein-protein interactions.[3]. This domain contains eight exons, and seven introns.

Research Models

There are extensive homologs to BTBD9 which allow for the use of animal models in deciphering its functions and interactions. The BTBD9 homolog Btbd9 is extensively expressed in the central nervous system of adult mice including the thalamus, sub-thalamic nuclei, cerebral cortex, cerebellum, hippocampus, and caudate nucleus.[4] The Drosophila homolog dBTBD9, was shown to regulate dopamine levels in the Drosophila brain and iron regulation in human cell-lines.[5]

Synaptic Plasticity

A recent study using Btbd9 knockout mice argued that BTBD9 is involved in synaptic plasticity, learning and memory, and protein alterations associated with vesicle recycling and endocytosis.[6].

Clinical Relevance

There is some evidence that BTBD9 may be associated with Restless legs syndrome.[7] There is not a known mutation of the BTBD9 gene that is responsible for the onset of RLS. Mutations to BTBD9 are positively correlated with characteristic symptoms of Restless leg syndrome such as decreased dopamine levels, increased movement, and disrupted sleep patterns.[8] Some genetic variants in BTBD9 that have been linked to Restless leg syndrome are also correlated with Tourette’s Syndrome that doesn’t present with Obsessive Compulsive Disorder.[9] One study was able to look at a single-nucleotide polymorphism in BTBD9. This mutation can be contributed to these different health issues.[10] This gene has also been linked to blood anemia in a study.[11] A study was conducted which was able to link a genetic marker in the BTBD9 gene with anemia in blood donors. It was found that higher ferritin levels could be connected to a variant in the allele (G) in the BTBD9 gene.[11] The high ferritin levels indicate a contribution to the variant allele (G) in the BTBD9 gene while decrease ferritin levels indicate the BTBD9 gene is being over expressed. [11,12]

References (I added three more references #10-12)


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10.  Ji, Y., Flower, R., Hyland, C., Saiepour, N., & Faddy, H. (2018). Genetic factors associated with iron storage in Australian blood donors. Blood Transfusion, 16(2), 123. https://doi.org/10.2450/2016.0138-16

11. DeAndrade, M. P., Johnson, R. L., Jr, Unger, E. L., Zhang, L., Groen, T. van, Gamble, K. L., & Li, Y. (2012). Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice. Human Molecular Genetics, 21(18), 3984. https://doi.org/10.1093/HMG/DDS221

12.  Zhang, L., & Fu, Y.-H. (2020). The molecular genetics of human sleep. European Journal of Neuroscience, 51(1), 422–428. https://doi.org/10.1111/EJN.14132