- 著者
- Ikuo Miura Yoshiaki Kikkawa Shumpei P. Yasuda Akiko Shinogi Daiki Usuda Vivek Kumar Joseph S. Takahashi Masaru Tamura Hiroshi Masuya Shigeharu Wakana
- 出版者
- Japanese Association for Laboratory Animal Science
- 雑誌
- Experimental Animals (ISSN:13411357)
- 巻号頁・発行日
- vol.71, no.2, pp.240-251, 2022 (Released:2022-05-20)
- 参考文献数
- 48
- 被引用文献数
- 2
Forward genetics is a powerful approach based on chromosomal mapping of phenotypes and has successfully led to the discovery of many mouse mutations in genes responsible for various phenotypes. Although crossing between genetically remote strains can produce F2 and backcross mice for chromosomal mapping, the phenotypes are often affected by background effects from the partner strains in genetic crosses. Genetic crosses between substrains might be useful in genetic mapping to avoid genetic background effects. In this study, we investigated single nucleotide polymorphisms (SNPs) available for genetic mapping using substrains of C57BL/6 and BALB/c mice. In C57BL/6 mice, 114 SNP markers were developed and assigned to locations on all chromosomes for full utilization for genetic mapping using genetic crosses between the C57BL/6J and C57BL/6N substrains. Moreover, genetic differences were identified in the 114 SNP markers among the seven C57BL/6 substrains from five production breeders. In addition, 106 SNPs were detected on all chromosomes of BALB/cAJcl and BALB/cByJJcl substrains. These SNPs could be used for genotyping in BALB/cJ, BALB/cAJcl, BALB/cAnNCrlCrlj, and BALB/cCrSlc mice, and they are particularly useful for genetic mapping using crosses between BALB/cByJJcl and other BALB/c substrains. The SNPs characterized in this study can be utilized for genetic mapping to identify the causative mutations of the phenotypes induced by N-ethyl-N-nitrosourea mutagenesis and the SNPs responsible for phenotypic differences between the substrains of C57BL/6 and BALB/c mice.
- 著者
- Ikuo Miura Masataka Tagami Takeshi Fujitani Mitsuaki Ogata
- 出版者
- The Genetics Society of Japan
- 雑誌
- Genes & Genetic Systems (ISSN:13417568)
- 巻号頁・発行日
- vol.92, no.4, pp.189-196, 2017-08-01 (Released:2018-02-10)
- 参考文献数
- 17
- 被引用文献数
- 1 6
The present study reports spontaneous tyrosinase gene mutations identified in oculocutaneous albinos of three Japanese wild frog species, Pelophylax nigromaculatus, Glandirana rugosa and Fejervarya kawamurai. This represents the first molecular analyses of albinic phenotypes in frogs. Albinos of P. nigromaculatus collected from two different populations were found to suffer from frameshift mutations. These mutations were caused by the insertion of a thymine residue within each of exons 1 and 4, while albinos in a third population lacked three nucleotides encoding lysine in exon 1. Albinos from the former two P. nigromaculatus populations were also associated with splicing variants of mRNA that lacked either exons 2–4 or exon 4. In the other two frog species examined, missense mutations that resulted in amino acid substitutions from glycine to arginine and glycine to aspartic acid were identified in exons 1 and 3, respectively. The two glycines in F. kawamurai and G. rugosa, and the lysine deleted in one P. nigromaculatus albino, were highly conserved in vertebrates, which suggested that they were situated in regions of critical importance to tyrosinase function. In fact, the glycine of G. rugosa is located within a predicted copper-binding domain. The five mutations identified in the present study are candidates for causing the albinic phenotypes, and, if directly confirmed, they are all unique among vertebrates, which suggests that molecular analysis of albino frogs could contribute to research on albinos in humans and vertebrates by providing new information about tyrosinase structure and transcript processing.