title: Spot pattern of leopard Danio is caused by mutation in the zebrafish connexin41.8 gene.
abstract: Leopard, a well-known zebrafish mutant that has a spotted skin pattern instead of stripes, is a model for the study of pigment patterning. To understand the mechanisms underlying stripe formation, as well as the spot variation observed in leopard, we sought to identify the gene responsible for this phenotype. Using positional cloning, we identified the leopard gene as an orthologue of the mammalian connexin 40 gene. A variety of different leopard alleles, such as leo(t1), leo(tq270) and leo(tw28), show different skin-pattern phenotypes. In this manuscript we show that the mutation in allele leo(t1) is a nonsense mutation, whereas alleles leo(tq270) and leo(tw28) contain the missense mutations I202F and I31F, respectively. Patch-clamp experiments of connexin hemichannels demonstrated that the I202F substitution in allele leo(tq270) disrupted the channel function of connexin41.8. These results demonstrate that mutations in this gene lead to a variety of leopard spot patterns.
authors.affiliation: Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, 4259-B21, Yokohama 226-8501, Japan.
authors.forename: Masakatsu
authors.initials: M
authors.lastname: Watanabe
authors.forename: Motoko
authors.initials: M
authors.lastname: Iwashita
authors.forename: Masaru
authors.initials: M
authors.lastname: Ishii
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Kurachi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kawakami
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kondo
authors.forename: Norihiro
authors.initials: N
authors.lastname: Okada
mesh_terms: D000483:Alleles; D000818:Animals; D019521:Body Patterning / Q000235:genetics; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D014644:Genetic Variation; D006367:HeLa Cells; D006801:Humans; D009154:Mutation; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics*; D015027:Zebrafish / Q000235:genetics*; D029961:Zebrafish Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D017630:Connexins; D029961:Zebrafish Proteins; C574532:gja5b protein, zebrafish