Molecular analysis of the Deoxyribonuclease 1 like2 gene

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K06815
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Laboratory animal science
• Research Institution: Institute of Physical and Chemical Research
• Principal Investigator: TAMURA MASARU 国立研究開発法人理化学研究所, バイオリソースセンター, 開発研究員 (50370119)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: マウス / 疾患モデル / 染色体異常疾患 / 16p13.3微小欠損症

Outline of Final Research Achievements

DNase is an enzyme that has a digestive activity of the deoxyribonucleic acid (DNA), and it is roughly divided into two groups, Dnase1 sub-family and Dnase2 sub-family. Dnase1 sub-family is composed of 4 genes, Dnase1, Dnase1l1, Dnase1l2 and Dnase1l3, all of which have exonuclease activity. It was reported that the mutation of human DNASE1 causes the autoimmune disease, systemic lupus erythematosus, and that haploinsufficiency of DNASE1 is involved in 16p13.3 partial deletion syndrome. Human DNase1L2 is most resemble to the DNase1 among the DNase1 sub-family at the amino acid sequence level. In addition, DNase1l2 is located on human chromosome 16, 16p13.3, near side of DNase1. However, function of DNase1L2 and the correlation between mutation of DNase1L2 and human syndromes remains unclear.
In this study, we have generated Dnase1l2 KO mouse, and performed phenotyping Dnase112 KO mice in order to demonstrate Dnase112 is involved in autoimmune disease and/or human chromosomal disorders.

Free Research Field

発生遺伝学