BTBD9
Identifiers
AliasesBTBD9, dJ322I12.1, BTB domain containing 9
External IDsOMIM: 611237 MGI: 1916625 HomoloGene: 14995 GeneCards: BTBD9
Orthologs
SpeciesHumanMouse
Entrez

114781

224671

Ensembl

ENSG00000183826

ENSMUSG00000062202

UniProt

Q96Q07

Q8C726

RefSeq (mRNA)

NM_001099272
NM_001172418
NM_052893
NM_152733

NM_027060
NM_172618

RefSeq (protein)

NP_001092742
NP_001165889
NP_443125
NP_689946

NP_081336
NP_766206

Location (UCSC)Chr 6: 38.17 – 38.64 MbChr 17: 30.43 – 30.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Chimera rendering of the BTBD9 gene. The green highlighted areas are the G nucleotides which indicate the areas which may be effected with disorders such as restless leg syndrome.

BTB domain containing 9 is a protein that in humans is encoded by the BTBD9 gene.

BTBD9 is in a subgroup of BTB(POZ) proteins, which contribute to the forming of limbs and determination of cell fate in developing Drosophila melanogaster.[5] 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.[6][7]

The gene is located on the short arm of chromosome 6 and the domain contains eight exons and seven introns. The chromosome 6 locational domain that codes for BTB(POZ) proteins is understood to contain genes encoding protein-protein interactions.[8] BTBD9 is a protein located in cellular cytosol and also expressed within Human embryonic kidney cell lineages.[9] There is also evidence suggesting that BTBD9 is highly expressed within the human nervous system from comparison analysis to Drosophila and human cell studies.[9]

Animal 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.[10] The Drosophila homolog dBTBD9, was shown to regulate dopamine levels in the Drosophila brain and iron regulation in human cell-lines.[9]

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.[11]

Clinical relevance

There is some evidence that BTBD9 may be associated with Restless legs syndrome.[8] However, there is not a known mutation of the BTBD9 gene that is responsible for the onset of the RLS.[12] 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] The overrepresentation of single nucleotide polymorphisms expressed in BTBD9 may be associated with Restless legs syndrome and nighttime leg movements.[8] Single nucleotide polymorphisms 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.[13] One scientific review regarding Restless Legs Syndrome expressed that Restless Legs Syndrome is a complex syndrome that has many risk factor indicators including the presence of the BTBD9 gene.[14] Drosophila CG18126 gene loss was found to be correlated to sleep lost behavior within fruit fly experiments.[9] The BTBD9 gene through the use of iron regulatory protein-2 in human cell line is found to be associated with the regulation of iron levels in human cells.[9] One scientific review discussed how the iron level association found in human cell lines was also present in animal phenotypes.[14] These model organisms could have normal iron levels present throughout the body even when the dopamine neural pathways had below normal iron levels within the brain[14] due to the BTBD9 presence. One study was able to look at a single nucleotide polymorphism in BTBD9. This mutation can be contributed to these various health issues.[15] The BTBD9 gene has also been linked to blood anemia in a study.[16] The study linked 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. The study was only conducted with Australian blood donors. The high ferritin levels indicated a contribution to the variant allel (G) while decreased ferritin levels indicate the BTBD9 gene is being over expressed.[16]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000183826 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000062202 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ 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.
  6. ↑ "Gene: BTBD9 - ENSG00000183826". bgee.org. Retrieved 2020-04-14.
  7. ↑ "BTBD9 BTB domain containing 9 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-11-13.
  8. 1 2 3 4 "BTBD9 gene". U.S. National Library of Medicine. November 26, 2019. Archived from the original on 2015-03-13. Retrieved December 2, 2019.
  9. 1 2 3 4 5 Freeman A, Pranski E, Miller RD, Radmard S, Bernhard D, Jinnah HA, et al. (June 2012). "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. PMC 3381864. PMID 22658601.
  10. ↑ 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): 168–176. Bibcode:2007Natur.445..168L. doi:10.1038/nature05453. PMID 17151600. S2CID 4421492.
  11. ↑ 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.
  12. ↑ Zhang L, Fu YH (January 2020). "The molecular genetics of human sleep". The European Journal of Neuroscience. 51 (1): 422–428. doi:10.1111/ejn.14132. PMC 6389443. PMID 30144347.
  13. ↑ Rivière JB, Xiong L, Levchenko A, St-Onge J, Gaspar C, Dion Y, et al. (October 2009). "Association of intronic variants of the BTBD9 gene with Tourette syndrome". Archives of Neurology. 66 (10): 1267–1272. doi:10.1001/archneurol.2009.213. PMID 19822783.
  14. 1 2 3 Allen RP, Donelson NC, Jones BC, Li Y, Manconi M, Rye DB, et al. (March 2017). "Animal models of RLS phenotypes". Sleep Medicine. Advances in Scientific Understanding of the Restless Legs Syndrome (RLS) (aka: Willis Ekbom Disease (WED)). 31: 23–28. doi:10.1016/j.sleep.2016.08.002. PMC 5349858. PMID 27839945.
  15. ↑ Ji Y, Flower R, Hyland C, Saiepour N, Faddy H (February 2018). "Genetic factors associated with iron storage in Australian blood donors". Blood Transfusion = Trasfusione del Sangue. 16 (2): 123–129. doi:10.2450/2016.0138-16. PMC 5839608. PMID 28151393.
  16. 1 2 DeAndrade MP, Johnson RL, Unger EL, Zhang L, van Groen T, Gamble KL, Li Y (September 2012). "Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice". Human Molecular Genetics. 21 (18): 3984–3992. doi:10.1093/hmg/dds221. PMC 3428151. PMID 22678064.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.