MYT1L
Myelin transcription factor 1 like is a protein that in humans is encoded by the MYT1L gene. [5]
Function
[edit]This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017].
MYT1L Syndrome
[edit]MYT1L syndrome is a rare neurodevelopmental disorder caused by mutations or deletions in the MYT1L gene, which encodes a transcription factor involved in brain development. Individuals with MYT1L syndrome often present with a range of features, including intellectual disability, severe cognitive impairment, extreme emotional dysregulation, autistic behaviors, hypotonia (low muscle tone), epilepsy, developmental delays, insatiable appetite leading to obesity and other behavioral and psychiatric challenges. The syndrome was first recognized through exome sequencing studies and has since been documented in several hundred individuals worldwide. Diagnosis is typically made via genetic testing.
The MYT1L Project Foundation is a parent-led, scientist-supported foundation established in 2025 to advance research into evidence-based interventions for MYT1L Neurodevelopmental Syndrome. The foundation is uniting families impacted by MYT1L syndrome and is working together towards a cure. https://www.myraregene.org/
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000186487 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000061911 – 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.
- ^
The MYT1L Project Foundation, MYT1L Syndrome (February 2025). "MYT1L Project Foundation". MYT1L Project Foundation. Retrieved 2025-02-05.
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Further reading
[edit]- Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E, Sabatti C, Geurts van Kessel A, Brunner HG, Ophoff RA, Veltman JA (2008). "Recurrent CNVs disrupt three candidate genes in schizophrenia patients". Am. J. Hum. Genet. 83 (4): 504–10. doi:10.1016/j.ajhg.2008.09.011. PMC 2561936. PMID 18940311.
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
- Wang T, Zeng Z, Li T, Liu J, Li J, Li Y, Zhao Q, Wei Z, Wang Y, Li B, Feng G, He L, Shi Y (2010). "Common SNPs in myelin transcription factor 1-like (MYT1L): association with major depressive disorder in the Chinese Han population". PLOS ONE. 5 (10): e13662. Bibcode:2010PLoSO...513662W. doi:10.1371/journal.pone.0013662. PMC 2965102. PMID 21048971.
- Wang T, Zeng Z, Li T, Liu J, Li J, Li Y, Zhao Q, Wei Z, Wang Y, Li B, Feng G, He L, Shi Y (2010). "Common SNPs in myelin transcription factor 1-like (MYT1L): association with major depressive disorder in the Chinese Han population". PLOS ONE. 5 (10): e13662. Bibcode:2010PLoSO...513662W. doi:10.1371/journal.pone.0013662. PMC 2965102. PMID 21048971.
- Li W, Wang X, Zhao J, Lin J, Song XQ, Yang Y, Jiang C, Xiao B, Yang G, Zhang HX, Lv LX (2012). "Association study of myelin transcription factor 1-like polymorphisms with schizophrenia in Han Chinese population". Genes Brain Behav. 11 (1): 87–93. doi:10.1111/j.1601-183X.2011.00734.x. PMID 21923761. S2CID 2280688.
- Stevens SJ, van Ravenswaaij-Arts CM, Janssen JW, Klein Wassink-Ruiter JS, van Essen AJ, Dijkhuizen T, van Rheenen J, Heuts-Vijgen R, Stegmann AP, Smeets EE, Engelen JJ (2011). "MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions". Am. J. Med. Genet. A. 155A (11): 2739–45. doi:10.1002/ajmg.a.34274. PMID 21990140. S2CID 19484566.
- Meyer KJ, Axelsen MS, Sheffield VC, Patil SR, Wassink TH (2012). "Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism". Psychiatr. Genet. 22 (3): 137–40. doi:10.1097/YPG.0b013e32834dc3f5. PMC 3309069. PMID 22157634.
- Lee Y, Mattai A, Long R, Rapoport JL, Gogtay N, Addington AM (2012). "Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia". Psychiatr. Genet. 22 (4): 206–9. doi:10.1097/YPG.0b013e328353ae3d. PMC 3384746. PMID 22547139.
- Rio M, Royer G, Gobin S, de Blois MC, Ozilou C, Bernheim A, Nizon M, Munnich A, Bonnefont JP, Romana S, Vekemans M, Turleau C, Malan V (2013). "Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH". Clin. Genet. 84 (1): 31–6. doi:10.1111/cge.12036. PMID 23061379. S2CID 23829301.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.