Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by a mutation in the ARSB gene, which encodes arylsulfatase B (ARSB), and is characterized by glycosaminoglycan accumulation. Some pathogenic mutations have been identified in or near the substrate-binding poc...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-09-01
|
| Series: | Biochemistry and Biophysics Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405580822001212 |
| _version_ | 1818516395599593472 |
|---|---|
| author | Kosuke Hosoba |
| author_facet | Kosuke Hosoba |
| author_sort | Kosuke Hosoba |
| collection | DOAJ |
| description | Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by a mutation in the ARSB gene, which encodes arylsulfatase B (ARSB), and is characterized by glycosaminoglycan accumulation. Some pathogenic mutations have been identified in or near the substrate-binding pocket of ARSB, whereas many missense mutations present far from the substrate-binding pocket. Each MPS VI patient shows different severity of clinical symptoms. To understand the relationship between mutation patterns and the severity of MPS VI clinical symptoms, mutations located far from the substrate-binding pocket must be investigated using mutation knock-in mice. Here, I generated a knock-in mouse model of human ARSB Y85H mutation identified in Japanese MPS VI patients using a CRISPR-Cas9-mediated approach. The generated mouse model exhibited phenotypes similar to those of MPS VI patients, including facial features, mucopolysaccharide accumulation, and smaller body size, suggesting that this mouse will be a valuable model for understanding MPS VI pathology. |
| first_indexed | 2024-12-11T00:41:34Z |
| format | Article |
| id | doaj.art-da30ed2da09341a3af9b01a117961d4c |
| institution | Directory Open Access Journal |
| issn | 2405-5808 |
| language | English |
| last_indexed | 2024-12-11T00:41:34Z |
| publishDate | 2022-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Biochemistry and Biophysics Reports |
| spelling | doaj.art-da30ed2da09341a3af9b01a117961d4c2022-12-22T01:26:54ZengElsevierBiochemistry and Biophysics Reports2405-58082022-09-0131101321Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-inKosuke Hosoba0Program of Biomedical Science, Graduate School of Integrated Sciences for Life, Hiroshima University, Higashi-Hiroshima, 739-8526, Japan; Program of Mathematical and Life Science, Graduate School of Integrated Sciences for Life, Hiroshima University, Higashi-Hiroshima, 739-8526, Japan; 1-3-1, Kagamiyama, Higashi-Hiroshima, 739-8526, Japan.Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by a mutation in the ARSB gene, which encodes arylsulfatase B (ARSB), and is characterized by glycosaminoglycan accumulation. Some pathogenic mutations have been identified in or near the substrate-binding pocket of ARSB, whereas many missense mutations present far from the substrate-binding pocket. Each MPS VI patient shows different severity of clinical symptoms. To understand the relationship between mutation patterns and the severity of MPS VI clinical symptoms, mutations located far from the substrate-binding pocket must be investigated using mutation knock-in mice. Here, I generated a knock-in mouse model of human ARSB Y85H mutation identified in Japanese MPS VI patients using a CRISPR-Cas9-mediated approach. The generated mouse model exhibited phenotypes similar to those of MPS VI patients, including facial features, mucopolysaccharide accumulation, and smaller body size, suggesting that this mouse will be a valuable model for understanding MPS VI pathology.http://www.sciencedirect.com/science/article/pii/S2405580822001212Mucopolysaccharidosis type VIArylsulfatase BCRISPR-Cas9 systemDisease model |
| spellingShingle | Kosuke Hosoba Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in Biochemistry and Biophysics Reports Mucopolysaccharidosis type VI Arylsulfatase B CRISPR-Cas9 system Disease model |
| title | Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in |
| title_full | Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in |
| title_fullStr | Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in |
| title_full_unstemmed | Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in |
| title_short | Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in |
| title_sort | generation of a novel disease model mouse for mucopolysaccharidosis type vi via c 252t c human arsb mutation knock in |
| topic | Mucopolysaccharidosis type VI Arylsulfatase B CRISPR-Cas9 system Disease model |
| url | http://www.sciencedirect.com/science/article/pii/S2405580822001212 |
| work_keys_str_mv | AT kosukehosoba generationofanoveldiseasemodelmouseformucopolysaccharidosistypeviviac252tchumanarsbmutationknockin |