MMS22L

MMS22L
Identifiers
Aliases	MMS22L , C6orf167, dJ39B17.2, MMS22 like, DNA repair protein
External IDs	OMIM: 615614 MGI: 2684980 HomoloGene: 18874 GeneCards: MMS22L
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6q16.1 Start 97,142,161 bp [1] End 97,283,217 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 A3 Start 24,496,451 bp [2] End 24,602,950 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence bone marrow bone marrow cells corpus callosum stromal cell of endometrium thymus Achilles tendon islet of Langerhans testicle appendix Top expressed in medial ganglionic eminence secondary oocyte endocardial cushion abdominal wall morula spermatid renal corpuscle medullary collecting duct spermatocyte hand More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component nuclear replication fork MCM complex nucleus FACT complex nucleoplasm cytosol Biological process double-strand break repair via homologous recombination DNA repair replication fork processing cellular response to DNA damage stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 253714 212377 Ensembl ENSG00000146263 ENSMUSG00000045751 UniProt Q6ZRQ5 B1AUR6 RefSeq (mRNA) NM_198468 NM_001350599 NM_001350600 NM_199467 RefSeq (protein) NP_940870 NP_001337528 NP_001337529 NP_955761 Location (UCSC) Chr 6: 97.14 – 97.28 Mb Chr 4: 24.5 – 24.6 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Methyl methanesulfonate-sensitivity protein 22-like also known as MMS22-like, DNA repair protein is a protein that in humans is encoded by the MMS22L gene. ^[5]

Model organisms

Mms22l knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal [6]
Citrobacter infection	Normal [7]
All tests and analysis from [8] [9]

Model organisms have been used in the study of MMS22L function. A conditional knockout mouse line, called Mms22l^{tm1a(EUCOMM)Wtsi [10]} 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. ^{[11] [12] [13]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[8] [14]} Twenty six tests were carried out on mutant mice and two significant abnormalities were observed. ^[8] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000146263 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000045751 - 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. "Entrez Gene: MMS22-like, DNA repair protein".
6. "Salmonella infection data for Mms22l". Wellcome Trust Sanger Institute.
7. "Citrobacter infection data for Mms22l". Wellcome Trust Sanger Institute.
8. 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.
9. Mouse Resources Portal, Wellcome Trust Sanger Institute.
10. "International Knockout Mouse Consortium".
11. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
12. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
13. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
14. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

Further reading

• Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl: 11858/00-001M-0000-0010-8592-0 . PMID   16169070. S2CID   8235923.
• Duro E, Lundin C, Ask K, Sanchez-Pulido L, MacArtney TJ, Toth R, Ponting CP, Groth A, Helleday T, Rouse J (Nov 2010). "Identification of the MMS22L-TONSL complex that promotes homologous recombination". Molecular Cell. 40 (4): 632–44. doi: 10.1016/j.molcel.2010.10.023 . PMID   21055984.
• O'Connell BC, Adamson B, Lydeard JR, Sowa ME, Ciccia A, Bredemeyer AL, Schlabach M, Gygi SP, Elledge SJ, Harper JW (Nov 2010). "A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability". Molecular Cell. 40 (4): 645–57. doi:10.1016/j.molcel.2010.10.022. PMC   3006237 . PMID   21055985.
• O'Donnell L, Panier S, Wildenhain J, Tkach JM, Al-Hakim A, Landry MC, Escribano-Diaz C, Szilard RK, Young JT, Munro M, Canny MD, Kolas NK, Zhang W, Harding SM, Ylanko J, Mendez M, Mullin M, Sun T, Habermann B, Datti A, Bristow RG, Gingras AC, Tyers MD, Brown GW, Durocher D (Nov 2010). "The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination". Molecular Cell. 40 (4): 619–31. doi:10.1016/j.molcel.2010.10.024. PMC   3031522 . PMID   21055983.
• Piwko W, Olma MH, Held M, Bianco JN, Pedrioli PG, Hofmann K, Pasero P, Gerlich DW, Peter M (Dec 2010). "RNAi-based screening identifies the Mms22L-Nfkbil2 complex as a novel regulator of DNA replication in human cells". The EMBO Journal. 29 (24): 4210–22. doi:10.1038/emboj.2010.304. PMC   3018799 . PMID   21113133.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.