DNASE1L2
| DNASE1L2 | |||||||||||||||||
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| Identifiers | |||||||||||||||||
| Aliases | DNASE1L2, DNAS1L2, deoxyribonuclease I-like 2 | ||||||||||||||||
| External IDs | MGI: 1913955 HomoloGene: 74391 GeneCards: DNASE1L2 | ||||||||||||||||
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| RNA expression pattern | |||||||||||||||||
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| Orthologs | |||||||||||||||||
| Species | Human | Mouse | |||||||||||||||
| Entrez | |||||||||||||||||
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| UniProt | |||||||||||||||||
| RefSeq (mRNA) | |||||||||||||||||
| RefSeq (protein) | |||||||||||||||||
| Location (UCSC) | Chr 16: 2.24 – 2.24 Mb | Chr 17: 24.44 – 24.44 Mb | |||||||||||||||
| PubMed search | [1] | [2] | |||||||||||||||
| Wikidata | |||||||||||||||||
| View/Edit Human | View/Edit Mouse |
Deoxyribonuclease-1-like 2 is an enzyme that in humans is encoded by the DNASE1L2 gene.[3][4][5]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Normal |
| Body weight | Abnormal[6] |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Abnormal[7] |
| Hot plate | Normal |
| Dysmorphology | Abnormal[8] |
| Indirect calorimetry | Abnormal[9] |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Abnormal[10] |
| Radiography | Abnormal[11] |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Abnormal[12] |
| Haematology | Abnormal[13] |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Normal[14] |
| Citrobacter infection | Normal[15] |
| All tests and analysis from[16][17] |
Model organisms have been used in the study of DNASE1L2 function. A conditional knockout mouse line, called Dnase1l2tm1(KOMP)Wtsi[18][19] 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.[20][21][22]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[16][23] Twenty three tests were carried out on mutant mice and eight significant abnormalities were observed.[16] 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.[16]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ 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.
- 1 2 3 4 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".
- ↑ "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.
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.
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