Annotation inferences using phylogenetic trees
Combined Automated Annotation using Multiple IEA Methods
Radiographic analysis of zebrafish skeletal defects.
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chihuahua is a dominant col1a1a allele causing a general defect in bone growth resembling osteogenesis imperfecta.
"Heterozygous chihuahua fish have phenotypic similarities to human osteogenesis imperfecta"
Zebrafish grainyhead-like1 is a common marker of different non-keratinocyte epidermal cell lineages, which segregate from each other in a Foxi3-dependent manner.
Actinotrichia collagens and their role in fin formation.
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col1a1a is expressed in actinotrichia-forming cells and is required for actinotrichia and fin fold morphogenesis.
"Morpholino knockdown in zebrafish embryos demonstrated that the two collagens and lh1 are essential for actinotrichia and fin fold morphogenesis."
Genetic Screen for Postembryonic Development in the Zebrafish (Danio rerio): Dominant Mutations Affecting Adult Form.
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dmh13 and dmh14 are dominant col1a1a glycine substitutions, and dmh29 is a col1a1b glycine substitution, all with short stature and vertebral defects.
"Both the dmh13 and dmh14 mutants carry mutations in the col1a1a gene (G1093R; G1144E), which are closely linked, while the dmh29 mutants exhibit mutations in a glycine residue of the col1a1b gene (G1123D), leading to a very similar phenotype."
Severely Impaired Bone Material Quality in Chihuahua Zebrafish Resembles Classical Dominant Human Osteogenesis Imperfecta.
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Chihuahua bone is hypermineralized with lower collagen maturity.
"At the tissue level, Chi/+ displayed a higher degree of mineralization, lower collagen maturity, lower mineral maturity"
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.
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Single heterozygous col1a1a or col1a1b knockouts are normal; the double heterozygote has a mild OI-like phenotype.
"Heterozygous loss of either α1(I) or α3(I) did not induce any skeletal abnormalities, while reduced levels of both α1(I) and α3(I) (col1a1a+/−;col1a1b+/− mutants) causes a mild skeletal phenotype with increased bone fragility, arguing for interchangeability and functional redundancy between α1(I) and the homologous α3(I)."
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Complete loss of col1a1a is lethal; complete loss of col1a1b is viable.
"Complete loss of the α1(I) chain causes lethality after 7 dpf, while loss of α3(I) only shows increased early lethality if the amount of α1(I) is also diminished."
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col1a1a knockout larvae lack actinotrichia.
"Upon detailed examination of the finfold, these actinotrichia were found to be absent in col1a1a−/− mutant larvae (Fig. 5D)."
Compression Fractures and Partial Phenotype Rescue With a Low Phosphorus Diet in the Chihuahua Zebrafish Osteogenesis Imperfecta Model.
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Chihuahua bone matrix has densely packed collagen fibrils and increased osteoclast activity.
"In contrast, the Chi/+ bone matrix is characterised by densely packed collagen fibrils in the vicinity of the osteoblasts (Figure 7C)."
Genetic analysis of fin formation in the zebrafish, Danio rerio.
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Large-scale screen identifying fin fold mutants, including (per ZFIN) the col1a1a allele tt281.
"Mutations in 11 genes lead to abnormal morphology or degeneration of both caudal and pectoral fin folds."
Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.
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Three type I collagen chains (alpha1, alpha2, alpha3) are present at the protein level in embryos and adult bone, skin and scales, at about 1:1:1.
"Even though in adult bone, skin and scales equal amounts of α1(I), α3(I) and α2(I) chains are present"
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col1a1a, col1a1b and col1a2 are co-expressed, except that only col1a1a is expressed in the fin fold.
"Interestingly, only col1a1a was shown to be expressed in the median fin fold and in the apical ectodermal ridge of the pectoral fin at 48, 72 and 96 hpf"
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alpha1(I) and alpha3(I) share 78% identity; alpha3(I) lacks one inter-chain C-propeptide cysteine.
"Interestingly, in proα3 this latter domain, crucial for chain association in the trimer, lacks one of the 4 conserved cysteine residues involved in inter-chain bonds (Cys63 of the proα1(I) C-propeptide)"
Phylogenetic analysis of vertebrate fibrillar collagen locates the position of zebrafish alpha3(I) and suggests an evolutionary link between collagen alpha chains and hox clusters.
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alpha3(I) is phylogenetically closest to alpha1(I) and likely arose from its duplication in the actinopterygian genome duplication.
"support the hypothesis that the alpha3(I) chain arose from a duplication of the alpha1(I) gene"
Phylogenetic analyses of ray-finned fishes (Actinopterygii) using collagen type I protein sequences.
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alpha3(I) is the fastest-evolving type I collagen chain in ray-finned fishes.
"with the α3 (I) sequence evolving the fastest, followed by the α2 (I) chain"