| 释义 |
- Function
- References
- Further reading
{{Infobox_gene}}Methyl-CpG binding domain protein 5 is a protein that in humans is encoded by the MBD5 gene. [1]FunctionThis gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]. References 1. ^{{cite web| title = Entrez Gene: Methyl-CpG binding domain protein 5| url = https://www.ncbi.nlm.nih.gov/gene/55777| accessdate = 2018-07-25}}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH |title=Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures |journal=Eur. J. Hum. Genet. |volume=18 |issue=4 |pages=436–41 |date=April 2010 |pmid=19904302 |pmc=2987257 |doi=10.1038/ejhg.2009.199 |url=}}
- {{cite journal |vauthors=Laget S, Joulie M, Le Masson F, Sasai N, Christians E, Pradhan S, Roberts RJ, Defossez PA |title=The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA |journal=PLoS ONE |volume=5 |issue=8 |pages=e11982 |date=August 2010 |pmid=20700456 |pmc=2917364 |doi=10.1371/journal.pone.0011982 |url=}}
- {{cite journal |vauthors=Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G |title=2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features |journal=Am. J. Med. Genet. A |volume=155A |issue=2 |pages=424–9 |date=February 2011 |pmid=21271666 |doi=10.1002/ajmg.a.33821 |url=}}
- {{cite journal |vauthors=Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH |title=Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder |journal=Am. J. Hum. Genet. |volume=89 |issue=4 |pages=551–63 |date=October 2011 |pmid=21981781 |pmc=3188839 |doi=10.1016/j.ajhg.2011.09.011 |url=}}
- {{cite journal |vauthors=Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, Ramsook SS, Rantus JA, Abrams AJ, Whitehead PL, Wright HH, Abramson RK, Haines JL, Cuccaro ML, Pericak-Vance MA, Gilbert JR |title=The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1 |journal=Autism Res |volume=5 |issue=6 |pages=385–97 |date=December 2012 |pmid=23055267 |pmc=3528798 |doi=10.1002/aur.1251 |url=}}
- {{cite journal |vauthors=Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P |title=Extended spectrum of MBD5 mutations in neurodevelopmental disorders |journal=Eur. J. Hum. Genet. |volume=21 |issue=12 |pages=1457–61 |date=December 2013 |pmid=23422940 |pmc=3831065 |doi=10.1038/ejhg.2013.22 |url=}}
- {{cite journal |vauthors=Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME |title=Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities |journal=Mol. Psychiatry |volume=19 |issue=3 |pages=368–79 |date=March 2014 |pmid=23587880 |pmc=4756476 |doi=10.1038/mp.2013.42 |url=}}
- {{cite journal |vauthors=Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH |title=Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder |journal=Eur. J. Hum. Genet. |volume=22 |issue=1 |pages=57–63 |date=January 2014 |pmid=23632792 |pmc=3865402 |doi=10.1038/ejhg.2013.67 |url=}}
- {{cite journal |vauthors=Baymaz HI, Fournier A, Laget S, Ji Z, Jansen PW, Smits AH, Ferry L, Mensinga A, Poser I, Sharrocks A, Defossez PA, Vermeulen M |title=MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain |journal=Proteomics |volume=14 |issue=19 |pages=2179–89 |date=October 2014 |pmid=24634419 |doi=10.1002/pmic.201400013 |url=}}
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