Homeobox protein Nkx-6.2 is a protein that in humans is encoded by the NKX6-2 gene.[5][6]
Nk6 homeobox 2 gene (Nkx6.2) is found on chromosome 10 in humans and on chromosome 7 in murine species.[7][8] Expression of the Nkx6.2 gene results in the Nkx6.2 transcription factor.[9] Its expression can be seen in the fetal brain, ventral portion of the neural tube, and the developing spinal cord during embryogenesis as well as in the adult brain.[9][10] Expression was also found to be in germ cells of testes.[11]
Nkx6.2 is involved in the patterning of the central nervous system during early embryo development.[12] As this gene continues to be researched, newfound information suggests that it aids in human oligodendrocyte maturation.[10][13] It has also been found to be important in motor function stemming from spinal neuronal circuits.[7]
Disorders with this gene can result in Spastic Ataxia which is a disease characterized by possible neurological issues, impaired learning ability, and a hypomyelinated central nervous system.[8][14] Another study has shown that methylation of Nkx6.2 can be correlated with renal cancer metastasis.[15] An Nkx6.2 knock-out mouse model showed abnormal motor ability thus corroborating that Nkx6.2 plays a role in central nervous system development.[7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000148826 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041309 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Lee SH, Davison JA, Vidal SM, Belouchi A (February 2001). "Cloning, expression and chromosomal location of NKX6B TO 10Q26, a region frequently deleted in brain tumors". Mamm. Genome. 12 (2): 157–62. doi:10.1007/s003350010247. PMID 11210186. S2CID 22368753.
- ↑ "Entrez Gene: NK6 homeobox 2".
- 1 2 3 Touch, M; Harris, A; Schakman, O; Kondratskaya, E; Boulland, J; Dauguet, N; Debrulle, S; Baudouin, C; Figueroa, M; Mu, X; Gow, A; Glover, C; Tissir, F; Clotman, F (2020). "Onecut-dependent Nkx6.2 transcription factor expression is required for proper formation and activity of spinal locomotor circuits". Scientific Reports. 10: 996. doi:10.1038/s41598-020-57945-4. PMC 6976625.
- 1 2 Hosseini Bereshneh, A; Hosseipour, S; Rasoulinezhad, M; Pak, N; Garshasbi, M; Tavasoli, A (2020). "Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8". European Journal of Medical Genetics. 63: 103868. doi:10.1016/j.ejmg.2020.103868.
- 1 2 Vallstedt, A; Muhr, J; Pattyn, A; Pierani, A; Mendelsohn, M; Sander, M; Jessel, T; Ericson, J (2001). "Different Levels of Repressor Activity Assign Redundant and Specific Roles to Nkx6 Genes in Motor Neuron and Interneuron Specification". Neuron. 31: 743-755. doi:10.1016/s0896-6273(01)00412-3.
- 1 2 Chelban, V; Patel, N; Vandrovcova, J; Zanetti, M; Lynch, D; Ryten, M; Botia, J; Bello, O; Tribollet, E; Efthymiou, S; Davagnanam, I; Bashiri, F; Wood, N; Rothman, J; Alkuraya, F (2017). "Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination". The American Journal of Human Genetics. 100: 969-977.
- ↑ Komuro, I; Schalling, M; Jahn, L; Bodmer, R; Jenkins, N; Copeland, N; Izumo, S (1993). "Gtx: a novel murine homeobox‐containing gene, expressed specifically in glial cells of the brain and germ cells of testis, has a transcriptional repressor activity in vitro for a serum‐inducible promoter". The EMBO Journal. 12: 1387-1401.
- ↑ Southwood, C; He, C; Garbern, J; Kamholz, J; Arroyo, E; Gow, A (2004). "CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure". Journal of Neuroscience. 24: 11215-11225.
- ↑ Cai, J; Zhu, Q; Zheng, K; Li, H; Qi, Y; Cao, Q; Qiu, M (2010). "Co‐localization of Nkx6. 2 and Nkx2. 2 homeodomain proteins in differentiated myelinating oligodendrocytes". Glia. 58: 458-468. doi:10.1002/glia.20937. PMC 2807475.
- ↑ Shurrab, S; Cordeiro, D; Mercimek-Andrews, S; Y․ Shuen, A (2023). "NKX6-2 Disease in Two Unrelated Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy". Brain Disorders. 9: 100069.
- ↑ Serth, J; Peters, I; Katzendorn, O; Dang, T; Moog, J; Balli, Z; Reese, C; Hennenlotter, J; Grote, A; Lafos, M; Tezval, H; Kuczyk, M (2022). "Identification of a Novel Renal Metastasis Associated CpG-Based DNA Methylation Signature (RMAMS)". Int J Mol Sci. 23.
Further reading
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.