Читать книгу Pathology of Genetically Engineered and Other Mutant Mice - Группа авторов - Страница 64

Spontaneous mutations have traditionally been named for the readily observable phenotype(s) they initially present. In the pre‐genomic era chromosomes were defined in large part by the linkage maps of phenotypic mutants. The gene(s) impacted by a spontaneous mutation are not initially known, and the symbol for such a heritable phenotypic marker is italicized and all lower case for recessive mutations, such as bg for beige, ob for obese, and d for dilute. The first letter of the symbol is in upper case for dominant or semi‐dominant mutations, such as Tr for trembler. When the impacted gene is identified, if the mutation is a molecular lesion in only one gene, then the original marker symbol becomes a superscript of that gene for the allele symbol, Lyst^bg, Lep^ob, Myo5a^d, and Pmp22^Tr, respectively. Although gene symbols may change over time as the function and ontology of the gene is better understood, other than becoming a superscript of the gene, the allele symbol remains the same as does the allele name. For example the commonly used nude mouse gene name has changed considerably over time (Table 3.11). For mice, the gene symbol has the first letter capitalized and subsequent letters in lower case, all in italics. Hyphens are avoided except to depict new alleles of the initial phenotypic mutation (Table 3.12). For example, while interleukin 10 is commonly written in journals as IL‐10, the correct gene symbol would be Il10 and protein symbol would be IL10. Human gene symbols are essentially the same as for mice except the human gene symbols are all in capital letters and italicized. Greek letters are not used at all, only Roman letters and Arabic numbers. For example, interferon gamma is Ifng. The protein coded for by this gene is listed in capital letters with no italics (IFNG) for both mouse and human proteins.