BTBD9

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]

BTB (POZ) domain containing 9
Identifiers
SymbolBTBD9
NCBI gene114781
HGNC21228
OMIM611237
RefSeqNM_152733
Other data
LocusChr. 6 p21

BTBD9 is a human gene.

The gene is located on the short arm of chromosome 6. This domain is understood to contain genes encoding protein-protein interactions.[3]

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] And 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]

References
  1. Stogios PJ, Downs GS, Jauhal JJ, Nandra SK, Privé GG (15 September 2005). "Sequence and structural analysis of BTB domain proteins". Genome Biology. 6 (10): R82. doi:10.1186/gb-2005-6-10-r82. PMC 1257465. PMID 16207353.
  2. "Gene: BTBD9 - ENSG00000183826". bgee.org. Retrieved 2020-04-14.
  3. "BTBD9 gene". U.S. National Library of Medicine. November 26, 2019. Retrieved December 2, 2019.
  4. Lein ES, Hawrylycz MJ, Ao N, Ayres M, Bensinger A, Bernard A, et al. (January 2007). "Genome-wide atlas of gene expression in the adult mouse brain". Nature. 445 (7124): 168–76. Bibcode:2007Natur.445..168L. doi:10.1038/nature05453. PMID 17151600. S2CID 4421492.
  5. Freeman, Amanda; Pranski, Elaine; Miller, R. Daniel; Radmard, Sara; Bernhard, Doug; Jinnah, Hyder; Betarbet, Ranjita; Rye, David B.; Sanyal, Subhabrata (2012-06-19). "Sleep fragmentation and motor restlessness in a Drosophila model of Restless Legs Syndrome". Current Biology. 22 (12): 1142–1148. doi:10.1016/j.cub.2012.04.027. ISSN 0960-9822. PMC 3381864. PMID 22658601.
  6. DeAndrade MP, Zhang L, Doroodchi A, Yokoi F, Cheetham CC, Chen HX, et al. (2012). Di Cunto F (ed.). "Enhanced hippocampal long-term potentiation and fear memory in Btbd9 mutant mice". PLOS ONE. 7 (4): e35518. Bibcode:2012PLoSO...735518D. doi:10.1371/journal.pone.0035518. PMC 3334925. PMID 22536397.
  7. Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, et al. (August 2007). "Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions". Nature Genetics. 39 (8): 1000–6. doi:10.1038/ng2099. PMID 17637780. S2CID 10606410.
  8. "CDD Conserved Protein Domain Family: BTB_POZ_BTBD9". www.ncbi.nlm.nih.gov. Retrieved 2020-04-14.
  9. Rivière, Jean-Baptiste; Xiong, Lan; Levchenko, Anastasia; St-Onge, Judith; Gaspar, Claudia; Dion, Yves; Lespérance, Paul; Tellier, Geneviève; Richer, François; Chouinard, Sylvain; Rouleau, Guy A. (2009-10-12). "Association of Intronic Variants of the BTBD9 Gene With Tourette Syndrome". Archives of Neurology. 66 (10): 1267–1272. doi:10.1001/archneurol.2009.213. ISSN 0003-9942. PMID 19822783.
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