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Fig. 4. (A) Homozygosity for the nonsense mutation (AAA->TAA) in sapta222a dmd exon 4 segregated exclusively with the sap phenotype. (B) Rooted tree showing dystrophin and utrophin proteins in vertebrates. The tree is rooted using Drosophila melanogaster dystrophin. The numbers represent the percentage of 1000 bootstrap trials that support the branch. Protein accession numbers: XP_081212 NP_000100 O97592 NP_031894 CAA31746 NP_009055 CAA58496. The Fugu sequences are manually corrected GENSCAN predictions from genomic scaffolds (www.jgi.doe.gov/fugu, Scaffold 234). The zebrafish utrophin sequence is predicted from the zebrafish genome project. The tree has been made from partial sequences corresponding to the zebrafish protein published in this paper. (C) Partial alignment of zebrafish (Dr_dys), predicted Fugu rubripes (Fr_predict), human (Hs_dys) and chicken (Gg_dys) dystrophin proteins including the two N-terminal calponin homology domains (CH, underlined). The position of the stop codon in sapta222a dmd is marked by an asterisk. Exon boundaries 2 to 7 are marked by green arrowheads, except between exons 6 and 7 (red) against which MO1 was directed. Chick, Gallus gallus; Dog, Canis familiaris; DYS, dystrophin; Fugu, Fugu rubripes; Hum, Homo sapiens; Mus, Mus musculus; Rat, Rattus norvegicus; UTRO, utrophin; Zebra, Danio rerio.





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