Nested retrotransposition in the East Asian mouse genome causes the classical nonagouti mutation.
Commun Biol
; 2: 283, 2019.
Article
em En
| MEDLINE
| ID: mdl-31396563
ABSTRACT
Black coat color (nonagouti) is a widespread classical mutation in laboratory mouse strains. The intronic insertion of endogenous retrovirus VL30 in the nonagouti (a) allele of agouti gene was previously reported as the cause of the nonagouti phenotype. Here, we report agouti mouse strains from East Asia that carry the VL30 insertion, indicating that VL30 alone does not cause the nonagouti phenotype. We find that a rare type of endogenous retrovirus, ß4, was integrated into the VL30 region at the a allele through nested retrotransposition, causing abnormal splicing. Targeted complete deletion of the ß4 element restores agouti gene expression and agouti coat color, whereas deletion of ß4 except for a single long terminal repeat results in black-and-tan coat color. Phylogenetic analyses show that the a allele and the ß4 retrovirus originated from an East Asian mouse lineage most likely related to Japanese fancy mice. These findings reveal the causal mechanism and historic origin of the classical nonagouti mutation.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cor de Cabelo
/
Evolução Molecular
/
Retrovirus Endógenos
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Proteína Agouti Sinalizadora
/
Mutação
Tipo de estudo:
Etiology_studies
Limite:
Animals
Idioma:
En
Revista:
Commun Biol
Ano de publicação:
2019
Tipo de documento:
Article