DNASE1L2

DNASE1L2
Identifiers
Aliases	DNASE1L2, DNAS1L2, deoxyribonuclease I-like 2, deoxyribonuclease 1 like 2
External IDs	OMIM: 602622; MGI: 1913955; HomoloGene: 74391; GeneCards: DNASE1L2; OMA:DNASE1L2 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	2,238,711 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	24,662,079 bp
RNA expression pattern
	Top expressed in
	skin of abdomen; ; skin of leg; ; skin of arm; ; right hemisphere of cerebellum; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; right frontal lobe; ; skin of thigh; ; vulva; ; Brodmann area 9;
	Top expressed in
	lip; ; esophagus; ; transitional epithelium of urinary bladder; ; skin of back; ; skin of external ear; ; umbilical cord; ; neural layer of retina; ; hair follicle; ; granulocyte; ; skin of abdomen;
	More reference expression data
	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; 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
	1775
	66705
	ENSG00000167968
	ENSMUSG00000024136
	Q92874
	Q9D1G0
	NM_001301680; NM_001374
	NM_025718
	NP_001288609; NP_001365
	NP_079994
	Wikidata
View/Edit Human	View/Edit Mouse

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000167968 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024136 – 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.
^ 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.
^ 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.
^ "Entrez Gene: DNASE1L2 deoxyribonuclease I-like 2".
^ "Body weight data for Dnase1l2". Wellcome Trust Sanger Institute.
^ "Grip strength data for Dnase1l2". Wellcome Trust Sanger Institute.
^ "Dysmorphology data for Dnase1l2". Wellcome Trust Sanger Institute.
^ "Indirect calorimetry data for Dnase1l2". Wellcome Trust Sanger Institute.
^ "DEXA data for Dnase1l2". Wellcome Trust Sanger Institute.
^ "Radiography data for Dnase1l2". Wellcome Trust Sanger Institute.
^ "Clinical chemistry data for Dnase1l2". Wellcome Trust Sanger Institute.
^ "Haematology data for Dnase1l2". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Dnase1l2". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Dnase1l2". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d 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.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium". Archived from the original on 2012-04-03. Retrieved 2012-02-12.
^ "Mouse Genome Informatics".
^ 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.
^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ 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.
^ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000167968 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9205125-5] 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.

[pmid1577479-6] 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.

[entrez-7] "Entrez Gene: DNASE1L2 deoxyribonuclease I-like 2".

[Body_weight-8] "Body weight data for Dnase1l2". Wellcome Trust Sanger Institute.

[Grip_strength-9] "Grip strength data for Dnase1l2". Wellcome Trust Sanger Institute.

[Dysmorphology-10] "Dysmorphology data for Dnase1l2". Wellcome Trust Sanger Institute.

[Indirect_calorimetry-11] "Indirect calorimetry data for Dnase1l2". Wellcome Trust Sanger Institute.

[DEXA-12] "DEXA data for Dnase1l2". Wellcome Trust Sanger Institute.

[Radiography-13] "Radiography data for Dnase1l2". Wellcome Trust Sanger Institute.

[Clinical_chemistry-14] "Clinical chemistry data for Dnase1l2". Wellcome Trust Sanger Institute.

[Haematology-15] "Haematology data for Dnase1l2". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-16] "Salmonella infection data for Dnase1l2". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-17] "Citrobacter infection data for Dnase1l2". Wellcome Trust Sanger Institute.

[mgp_reference-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.

[allele_ref-20] "International Knockout Mouse Consortium". Archived from the original on 2012-04-03. Retrieved 2012-02-12.

[mgi_allele_ref-21] "Mouse Genome Informatics".

[pmid21677750-22] 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.

[mouse_library-23] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-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.

[pmid21722353-25] 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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Model organisms

References

Further reading