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]
End	97,283,217 bp[1]
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)[2]
End	24,602,950 bp[2]
RNA expression pattern
	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
	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
	253714
	212377
	ENSG00000146263
	ENSMUSG00000045751
	Q6ZRQ5
	B1AUR6
	NM_198468; NM_001350599; NM_001350600
	NM_199467
	NP_940870; NP_001337528; NP_001337529
	NP_955761
	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

GRCh38: Ensembl release 89: ENSG00000146263 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000045751 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: MMS22-like, DNA repair protein".
"Salmonella infection data for Mms22l". Wellcome Trust Sanger Institute.
"Citrobacter infection data for Mms22l". Wellcome Trust Sanger Institute.
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.
Mouse Resources Portal, Wellcome Trust Sanger Institute.
"International Knockout Mouse Consortium".
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.
Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
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.
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.

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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000146263 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: MMS22-like, DNA repair protein".

[''Salmonella''_infection-6] "Salmonella infection data for Mms22l". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-7] "Citrobacter infection data for Mms22l". Wellcome Trust Sanger Institute.

[mgp_reference-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.

[allele_ref-10] "International Knockout Mouse Consortium".

[pmid21677750-11] 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.

[mouse_library-12] Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-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.

[pmid21722353-14] 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.

MMS22L

Model organisms

References

Further reading