DNASE1L2

Deoxyribonuclease-1-like 2 is an enzyme that in humans is encoded by the DNASE1L2 gene.[5][6][7]

DNASE1L2
Identifiers
Aliases	DNASE1L2, DNAS1L2, deoxyribonuclease I-like 2, deoxyribonuclease 1 like 2
External IDs	OMIM: 602622 MGI: 1913955 HomoloGene: 74391 GeneCards: DNASE1L2
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 2,235,816 bp[1] End 2,238,711 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 A3.3 Start 24,440,081 bp[2] End 24,443,105 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • calcium ion binding • endonuclease activity • nuclease activity • hydrolase activity • deoxyribonuclease activity • metal ion binding • deoxyribonuclease I activity Cellular component • cytoplasm • extracellular region • cell nucleus Biological process • hair follicle development • DNA metabolic process • DNA catabolic process • corneocyte development • nucleic acid phosphodiester bond hydrolysis • DNA catabolic process, endonucleolytic Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	1775	66705
Ensembl	ENSG00000167968	ENSMUSG00000024136
UniProt	Q92874	Q9D1G0
RefSeq (mRNA)	NM_001301680 NM_001374	NM_025718
RefSeq (protein)	NP_001288609 NP_001365	NP_079994
Location (UCSC)	Chr 16: 2.24 – 2.24 Mb	Chr 17: 24.44 – 24.44 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Dnase1l2 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Abnormal[8]
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Abnormal[9]
Hot plate	Normal
Dysmorphology	Abnormal[10]
Indirect calorimetry	Abnormal[11]
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Abnormal[12]
Radiography	Abnormal[13]
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal[14]
Haematology	Abnormal[15]
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Eye Histopathology	Normal
Salmonella infection	Normal[16]
Citrobacter infection	Normal[17]
All tests and analysis from[18][19]

Model organisms have been used in the study of DNASE1L2 function. A conditional knockout mouse line, called Dnase1l2^{tm1(KOMP)Wtsi}[20][21] 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.[22][23][24]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[18][25] Twenty three tests were carried out on mutant mice and eight significant abnormalities were observed.[18] Homozygous mutant animals had a decreased body weight, grip strength and bone mineral content; a kinked tail, abnormal indirect calorimetry and femur/tibia morphology. Females also had an increased blood urea nitrogen level while males had a decreased leukocyte cell number.[18]

References

1. GRCh38: Ensembl release 89: ENSG00000167968 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024136 - 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. Rodriguez AM, Rodin D, Nomura H, Morton CC, Weremowicz S, Schneider MC (Sep 1997). "Identification, localization, and expression of two novel human genes similar to deoxyribonuclease I". Genomics. 42 (3): 507–13. doi:10.1006/geno.1997.4748. PMID 9205125.
6. Germino GG, Weinstat-Saslow D, Himmelbauer H, Gillespie GA, Somlo S, Wirth B, Barton N, Harris KL, Frischauf AM, Reeders ST (Jun 1992). "The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region". Genomics. 13 (1): 144–51. doi:10.1016/0888-7543(92)90214-D. PMID 1577479.
7. "Entrez Gene: DNASE1L2 deoxyribonuclease I-like 2".
8. "Body weight data for Dnase1l2". Wellcome Trust Sanger Institute.
9. "Grip strength data for Dnase1l2". Wellcome Trust Sanger Institute.
10. "Dysmorphology data for Dnase1l2". Wellcome Trust Sanger Institute.
11. "Indirect calorimetry data for Dnase1l2". Wellcome Trust Sanger Institute.
12. "DEXA data for Dnase1l2". Wellcome Trust Sanger Institute.
13. "Radiography data for Dnase1l2". Wellcome Trust Sanger Institute.
14. "Clinical chemistry data for Dnase1l2". Wellcome Trust Sanger Institute.
15. "Haematology data for Dnase1l2". Wellcome Trust Sanger Institute.
16. "Salmonella infection data for Dnase1l2". Wellcome Trust Sanger Institute.
17. "Citrobacter infection data for Dnase1l2". Wellcome Trust Sanger Institute.
18. 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.
19. Mouse Resources Portal, Wellcome Trust Sanger Institute.
20. "International Knockout Mouse Consortium". Archived from the original on 2012-04-03. Retrieved 2012-02-12.
21. "Mouse Genome Informatics".
22. 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.
23. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
24. 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.
25. 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

• Jäger K, Fischer H, Tschachler E, Eckhart L (2008). "Terminal differentiation of nail matrix keratinocytes involves up-regulation of DNase1L2 but is independent of caspase-14 expression". Differentiation. 75 (10): 939–46. doi:10.1111/j.1432-0436.2007.00183.x. PMID 17490414.
• Fischer H, Eckhart L, Mildner M, et al. (2007). "DNase1L2 degrades nuclear DNA during corneocyte formation". J. Invest. Dermatol. 127 (1): 24–30. doi:10.1038/sj.jid.5700503. PMID 16902420.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Shiokawa D, Matsushita T, Kobayashi T, et al. (2005). "Characterization of the human DNAS1L2 gene and the molecular mechanism for its transcriptional activation induced by inflammatory cytokines". Genomics. 84 (1): 95–105. doi:10.1016/j.ygeno.2004.02.003. PMID 15203207.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Shiokawa D, Tanuma S (2001). "Characterization of human DNase I family endonucleases and activation of DNase gamma during apoptosis". Biochemistry. 40 (1): 143–52. doi:10.1021/bi001041a. PMID 11141064.