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词条 M33 (gene)
释义

  1. Gene location

  2. Protein structure

  3. Function and mechanism

  4. Mutation

  5. References

M33 is a gene.[1] It is a mammalian homologue of Drosophila Polycomb.[1] It localises to euchromatin within interphase nuclei, but it is enriched within the centromeric heterochromatin of metaphase chromosomes.[1] In mice, the official symbol of M33 gene styled Cbx2 and the official name chromobox 2 are maintained by the MGI. Also known as pc; [https://www.ncbi.nlm.nih.gov/gene/12416 MOD2]. In human ortholog CBX2, synonyms [https://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=full_report&list_uids=84733 CDCA6], M33, [https://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=full_report&list_uids=84733 SRXY5] from orthology source HGNC. M33 was isolated by means of the structural similarity of its chromodomain.[2] It contains a region of homology shared by Xenopus and Drosophila in the fifth exon. [3] Polycomb genes in Drosophila mediate changes in higher-order chromatin structure to maintain the repressed state of developmentally regulated genes .[4] M33 deficiency interferes with steps upstream of the Y-chromosome-specific SRY gene may cause sex reversal.[5] It may also involved in the campomelic syndrome and neoplastic disorders linked to allele loss in this region.[6] Disruption of the murine M33 gene, displayed posterior transformation of the sternal ribs and vertebral columns .[7]

Gene location

The mouse M33 gene is located on the Chromosome 11, from base pair 119,022,962 to base pair 119,031,270 (Build GRCm38/mm10)(Map). Human homolog of M33, Chromobox homolog 2 (CBX2 ) is located on Chromosome 17, from base pair 79,777,188 to base pair 79,787,650(Build GRCh38.p2 )([https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=84733) Map]).

Protein structure

This protein contains Chromo (CHRromatin Organization MOdifier) domain and nuclear localization signal motif.[8] The full-length M33 sequence encodes a 519 amino acid (aa) protein.[2]

Function and mechanism

The mouse Polycomb group (PcG) protein M33 maintains repressed states of developmentally important genes, including homeotic genes and forms nuclear complexes with other PcG members. e.g.BMI1.[9] It also direct and/or indirect controls the vicinity of Hox genes regulatory regions, which are the accessibility of retinoic acid response elements .[10] The deletion of Cbx2/M33 in mice results in male-to-female sex reversal, homeotic transformations of the axial skeleton, and growth retardation.[11] The expression of Sry and Sox9 genes in gonads of XY Cbx2-knockout mice is reduced, suggesting that Cbx2 is required for the expression of Sry in gonadal development.[12] Moreover, the deficient of M33 also possessed abnormally few nucleated cells in the thymus and spleen, due to the aberrant T-cell expansion.[13] In transiently transfected cells, M33 acts as a transcriptional repressor . Biochemical assays indicate that two murine proteins, Ring1A[14] and Ring1B[14] interact directly with the repressor domain of M33 and that Ring1A can also behave as a transcriptional repressor.[15]

Mutation

[https://www.ncbi.nlm.nih.gov/pubmed/9641679 Katoh-Fukui et al. (1998)] indicates that homozygous M33-mutant mice represent the first case in which male-to-female gonadal sex reversal results from a defect in a known recessive gene. In humans, the mutations in this gene are also associated with gonadal dysgenesis. Compound heterozygous mutations in M33 were identified in a patient with 46,XY DSD, histologically female internally, normal ovaries and external genitalia.[16]

References

1. ^1 2 {{cite journal | vauthors = Wang G, Horsley D, Ma A, Otte AP, Hutchings A, Butcher GW, Singh PB | title = M33, a mammalian homologue of Drosophila Polycomb localises to euchromatin within interphase nuclei but is enriched within the centromeric heterochromatin of metaphase chromosomes | journal = Cytogenetics and Cell Genetics | volume = 78 | issue = 1 | pages = 50–5 | year = 1997 | pmid = 9345907 | doi = 10.1159/000134626 }}
2. ^1 {{cite journal | vauthors = Pearce JJ, Singh PB, Gaunt SJ | title = The mouse has a Polycomb-like chromobox gene | journal = Development | volume = 114 | issue = 4 | pages = 921–9 | date = April 1992 | pmid = 1352241 }}
3. ^{{Cite journal|last=Reijnen|first=Marlene J.|last2=Hamer|first2=Karien M.|last3=den Blaauwen|first3=Jan L.|last4=Lambrechts|first4=Caro|last5=Schoneveld|first5=Ilse|last6=van Driel|first6=Roel|last7=Otte|first7=Arie P.|date=1995-09-01|title=Polycomb and bmi-1 homologs are expressed in overlapping patterns in Xenopus embryos and are able to interact with each other|url=http://www.sciencedirect.com/science/article/pii/092547739500422X|journal=Mechanisms of Development|volume=53|issue=1|pages=35–46|doi=10.1016/0925-4773(95)00422-X|pmid=8555110}}
4. ^{{cite journal | vauthors = Orlando V, Paro R | title = Mapping Polycomb-repressed domains in the bithorax complex using in vivo formaldehyde cross-linked chromatin | journal = Cell | volume = 75 | issue = 6 | pages = 1187–98 | date = December 1993 | pmid = 7903220 | doi = 10.1016/0092-8674(93)90328-n }}
5. ^{{cite journal | vauthors = Katoh-Fukui Y, Tsuchiya R, Shiroishi T, Nakahara Y, Hashimoto N, Noguchi K, Higashinakagawa T | title = Male-to-female sex reversal in M33 mutant mice | journal = Nature | volume = 393 | issue = 6686 | pages = 688–92 | date = June 1998 | pmid = 9641679 | doi = 10.1038/31482 }}
6. ^{{Cite web|url=https://datasheets.scbt.com/sc-136387.pdf|title=M33 (34): sc-136387 | publisher=Santa Cruz Biotechnology, Inc.}}
7. ^{{cite journal | vauthors = Katoh-Fukui Y, Owaki A, Toyama Y, Kusaka M, Shinohara Y, Maekawa M, Toshimori K, Morohashi K | title = Mouse Polycomb M33 is required for splenic vascular and adrenal gland formation through regulating Ad4BP/SF1 expression | journal = Blood | volume = 106 | issue = 5 | pages = 1612–20 | date = September 2005 | pmid = 15899914 | doi = 10.1182/blood-2004-08-3367 }}
8. ^{{cite journal | vauthors = Hirose S, Komoike Y, Higashinakagawa T | title = Identification of a nuclear localization signal in mouse polycomb protein, M33 | journal = Zoological Science | volume = 23 | issue = 9 | pages = 785–91 | date = September 2006 | pmid = 17043400 | doi = 10.2108/zsj.23.785 }}
9. ^{{cite journal | vauthors = Hashimoto N, Brock HW, Nomura M, Kyba M, Hodgson J, Fujita Y, Takihara Y, Shimada K, Higashinakagawa T | title = RAE28, BMI1, and M33 are members of heterogeneous multimeric mammalian Polycomb group complexes | journal = Biochemical and Biophysical Research Communications | volume = 245 | issue = 2 | pages = 356–65 | date = April 1998 | pmid = 9571155 | doi = 10.1006/bbrc.1998.8438 }}
10. ^{{cite journal | vauthors = Bel-Vialar S, Coré N, Terranova R, Goudot V, Boned A, Djabali M | title = Altered retinoic acid sensitivity and temporal expression of Hox genes in polycomb-M33-deficient mice | journal = Developmental Biology | volume = 224 | issue = 2 | pages = 238–49 | date = August 2000 | pmid = 10926763 | doi = 10.1006/dbio.2000.9791 }}
11. ^{{cite journal | vauthors = Baumann C, De La Fuente R | title = Role of polycomb group protein cbx2/m33 in meiosis onset and maintenance of chromosome stability in the Mammalian germline | journal = Genes | volume = 2 | issue = 1 | pages = 59–80 | date = 2011-01-11 | pmid = 22200029 | pmc = 3244348 | doi = 10.3390/genes2010059 }}
12. ^{{cite journal | vauthors = Ono M, Harley VR | title = Disorders of sex development: new genes, new concepts | journal = Nature Reviews. Endocrinology | volume = 9 | issue = 2 | pages = 79–91 | date = February 2013 | pmid = 23296159 | doi = 10.1038/nrendo.2012.235 }}
13. ^{{cite journal | vauthors = Coré N, Bel S, Gaunt SJ, Aurrand-Lions M, Pearce J, Fisher A, Djabali M | title = Altered cellular proliferation and mesoderm patterning in Polycomb-M33-deficient mice | journal = Development | volume = 124 | issue = 3 | pages = 721–9 | date = February 1997 | pmid = 9043087 | url = https://www.researchgate.net/publication/14168105 }}
14. ^1 {{cite journal | vauthors = Vidal M | title = Role of polycomb proteins Ring1A and Ring1B in the epigenetic regulation of gene expression | journal = The International Journal of Developmental Biology | volume = 53 | issue = 2–3 | pages = 355–70 | date = 2009-01-01 | pmid = 19412891 | doi = 10.1387/ijdb.082690mv }}
15. ^{{cite journal | vauthors = Schoorlemmer J, Marcos-Gutiérrez C, Were F, Martínez R, García E, Satijn DP, Otte AP, Vidal M | title = Ring1A is a transcriptional repressor that interacts with the Polycomb-M33 protein and is expressed at rhombomere boundaries in the mouse hindbrain | journal = The EMBO Journal | volume = 16 | issue = 19 | pages = 5930–42 | date = October 1997 | pmid = 9312051 | pmc = 1170224 | doi = 10.1093/emboj/16.19.5930 }}
16. ^{{cite journal | vauthors = Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ | title = Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene | journal = American Journal of Human Genetics | volume = 84 | issue = 5 | pages = 658–63 | date = May 2009 | pmid = 19361780 | pmc = 2680992 | doi = 10.1016/j.ajhg.2009.03.016 }}

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