ASXL1

Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.[5][6]

ASXL1
Identifiers
AliasesASXL1, BOPS, MDS, additional sex combs like 1, transcriptional regulator, ASXL transcriptional regulator 1
External IDsOMIM: 612990 MGI: 2684063 HomoloGene: 9098 GeneCards: ASXL1
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q11.21Start32,358,330 bp[1]
End32,439,319 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

171023

228790

Ensembl

ENSG00000171456

ENSMUSG00000042548

UniProt

Q8IXJ9
Q498B9

P59598

RefSeq (mRNA)

NM_001164603
NM_015338
NM_001363734

NM_001039939

RefSeq (protein)

NP_001158075
NP_056153
NP_001350663
NP_001158075.1

NP_001035028

Location (UCSC)Chr 20: 32.36 – 32.44 MbChr 2: 153.35 – 153.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. Although the function of the protein encoded by this gene is not known, it does show some sequence similarity to the protein encoded by the Drosophila Asx gene.[6]

Model organisms

Model organisms have been used in the study of ASXL1 function. A conditional knockout mouse line, called Asxl1tm1a(EUCOMM)Wtsi[12][13] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty five tests were carried out on mutant mice and four significant abnormalities were observed.[10] Few homozygous mutant embryos were identified during gestation and those that were alive had craniofacial and eye defects, none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; decreased vertebrae number and increased bone strength was observed in these animals.[10]

References

  1. GRCh38: Ensembl release 89: ENSG00000171456 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000042548 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Fisher CL, Berger J, Randazzo F, Brock HW (Mar 2003). "A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11". Gene. 306: 115–26. doi:10.1016/S0378-1119(03)00430-X. PMID 12657473.
  6. "Entrez Gene: ASXL1 additional sex combs like 1 (Drosophila)".
  7. "Radiography data for Asxl1". Wellcome Trust Sanger Institute.
  8. "Salmonella infection data for Asxl1". Wellcome Trust Sanger Institute.
  9. "Citrobacter infection data for Asxl1". Wellcome Trust Sanger Institute.
  10. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  11. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. "International Knockout Mouse Consortium".
  13. "Mouse Genome Informatics".
  14. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  15. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  17. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading


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