SET domain containing protein 1A (SETD1A) is a protein that serves as a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at the lys4 residue ( K4). SETD1A is highly homologous with SETDB1 but has a distinct subnuclear distribution. [1]
Clinical significance
Mutations of the SETD1A gene can cause neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) discovered in 2021, [2] and early-onset epilepsy with or without developmental delay, first described in 2019. [3]
According to a review published in 2018, mutations of the SETD1A gene may increase the risk of schizophrenia, based on studies available up to that date. [4]
History
The protein was first described in human in 2003 by Wysocka et al.
See also
- SETDB1 - highly homologous to SETD1A
- SET domain
References
- ^ Sugeedha J, Gautam J, Tyagi S (May 2021). "SET1/MLL family of proteins: functions beyond histone methylation". Epigenetics. 16 (5): 469–487. doi: 10.1080/15592294.2020.1809873. PMC 8078731. PMID 32795105.
- ^ Kummeling J, Stremmelaar DE, Raun N, Reijnders MR, Willemsen MH, Ruiterkamp-Versteeg M, Schepens M, Man CC, Gilissen C, Cho MT, McWalter K, Sinnema M, Wheless JW, Simon ME, Genetti CA, Casey AM, Terhal PA, van der Smagt JJ, van Gassen KL, Joset P, Bahr A, Steindl K, Rauch A, Keller E, Raas-Rothschild A, Koolen DA, Agrawal PB, Hoffman TL, Powell-Hamilton NN, Thiffault I, Engleman K, Zhou D, Bodamer O, Hoefele J, Riedhammer KM, Schwaibold EM, Tasic V, Schubert D, Top D, Pfundt R, Higgs MR, Kramer JM, Kleefstra T (June 2021). "Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome" (PDF). Molecular Psychiatry. 26 (6): 2013–2024. doi: 10.1038/s41380-020-0725-5. PMID 32346159. S2CID 212792900.
- ^ Yu X, Yang L, Li J, Li W, Li D, Wang R, Wu K, Chen W, Zhang Y, Qiu Z, Zhou W (December 2019). "De Novo and Inherited SETD1A Variants in Early-onset Epilepsy". Neuroscience Bulletin. 35 (6): 1045–1057. doi: 10.1007/s12264-019-00400-w. PMC 6864154. PMID 31197650.
- ^ Coelewij L, Curtis D (September 2018). "Mini-review: Update on the genetics of schizophrenia". Annals of Human Genetics. 82 (5): 239–243. doi: 10.1111/ahg.12259. PMID 29923609. S2CID 49311660.
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