orthologous cdc45 protein refseq ids (Gallus BioPharmaceuticals)

Gallus BioPharmaceuticals orthologous cdc45 protein refseq ids

Comparison of clinical features of individuals affected by MGORS7.

Orthologous Cdc45 Protein Refseq Ids, supplied by Gallus BioPharmaceuticals, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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orthologous cdc45 protein refseq ids - by Bioz Stars, 2026-06

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Journal: European Journal of Human Genetics

Article Title: A second hotspot for pathogenic exon-skipping variants in CDC45

doi: 10.1038/s41431-024-01583-1

Figure Lengend Snippet: Comparison of clinical features of individuals affected by MGORS7.

Article Snippet: Orthologous CDC45 protein RefSeq IDs: Homo sapiens ( H. sapiens ; NP_003495.1), Pan troglodytes ( P. troglodytes ; XP_016795191.1), Canis lupus familiaris ( C. familiaris ; XP_543547.3), Mus musculus ( M. musculus ; NP_033992.2), Gallus gallus ( G. gallus , XP_415070.3), Danio rerio ( D. rerio ; NP_998551.1).

Techniques: Comparison

A Schematic of the CDC45 gene region amplified in minigene splicing assay, showing position of two variants under study with the location of RT-PCR primers noted as arrows. B RT-PCR of CDC45 splicing products from plasmid-derived mRNA transiently expressed in HEK293FT cells, with two major transcript products produced. Heteroduplex bands are visible as faint high molecular weight products in all lanes. C Sanger sequencing confirms the higher molecular weight product (~580 bp) in ( B ). represents the canonical transcript for this region of CDC45 , whereas the lower molecular weight product (~450 bp) reflects a novel transcript skipping exon 15. D . Protein model of CDC45 (PDB code: 5DGO). The region of CDC45 encoded by exon 15 (purple) is within α/β domain II of CDC45 and includes a core α-helix, so absence of this α-helix is expected to impact protein stability. The location of Pro463, substituted in a previously established pathogenic missense variant, is noted within the same α-helix.

Journal: European Journal of Human Genetics

Article Title: A second hotspot for pathogenic exon-skipping variants in CDC45

doi: 10.1038/s41431-024-01583-1

Figure Lengend Snippet: A Schematic of the CDC45 gene region amplified in minigene splicing assay, showing position of two variants under study with the location of RT-PCR primers noted as arrows. B RT-PCR of CDC45 splicing products from plasmid-derived mRNA transiently expressed in HEK293FT cells, with two major transcript products produced. Heteroduplex bands are visible as faint high molecular weight products in all lanes. C Sanger sequencing confirms the higher molecular weight product (~580 bp) in ( B ). represents the canonical transcript for this region of CDC45 , whereas the lower molecular weight product (~450 bp) reflects a novel transcript skipping exon 15. D . Protein model of CDC45 (PDB code: 5DGO). The region of CDC45 encoded by exon 15 (purple) is within α/β domain II of CDC45 and includes a core α-helix, so absence of this α-helix is expected to impact protein stability. The location of Pro463, substituted in a previously established pathogenic missense variant, is noted within the same α-helix.

Techniques: Amplification, Splicing Assay, Reverse Transcription Polymerase Chain Reaction, Plasmid Preparation, Derivative Assay, Produced, High Molecular Weight, Sequencing, Molecular Weight, Variant Assay

A Schematic of 3′ region of the CDC45 gene showing the position of c.*1+5G>A in the terminal intron (intron 18, NM_003504.5). B Nucleotide conservation and PhyloP score at the exon/intron boundary, with the site of the identified intronic variant indicated. Ter, termination codon (red). Grey box, first 1–2 nucleotides of the 3ʹUTR. PhyloP analysis measured nucleotide evolutionary conservation across 100 vertebrate species from the UCSC genome database. PhyloP scores represent -log p values under a null hypothesis of neutral evolution. Positive scores (blue) are predicted to be conserved; negative values (green) predict faster-evolving nucleotides. The +5 position is the most strongly conserved intronic position, with a phyloP score of 6.74. C Output scores from SpliceAI, strongly supporting loss of the exon 18 splice donor site (0.8 is the threshold for a high precision prediction). No cryptic splice donor site is predicted, suggesting the entire intron could be retained and form part of the 3ʹUTR sequence. D Schematic of predicted motifs within the canonical human CDC45 3ʹUTR, with PhyloP scores of ARE and polyA sites. The intronic predicted HuR site in the human intron is also indicated (purple).

Journal: European Journal of Human Genetics

Article Title: A second hotspot for pathogenic exon-skipping variants in CDC45

doi: 10.1038/s41431-024-01583-1

Figure Lengend Snippet: A Schematic of 3′ region of the CDC45 gene showing the position of c.*1+5G>A in the terminal intron (intron 18, NM_003504.5). B Nucleotide conservation and PhyloP score at the exon/intron boundary, with the site of the identified intronic variant indicated. Ter, termination codon (red). Grey box, first 1–2 nucleotides of the 3ʹUTR. PhyloP analysis measured nucleotide evolutionary conservation across 100 vertebrate species from the UCSC genome database. PhyloP scores represent -log p values under a null hypothesis of neutral evolution. Positive scores (blue) are predicted to be conserved; negative values (green) predict faster-evolving nucleotides. The +5 position is the most strongly conserved intronic position, with a phyloP score of 6.74. C Output scores from SpliceAI, strongly supporting loss of the exon 18 splice donor site (0.8 is the threshold for a high precision prediction). No cryptic splice donor site is predicted, suggesting the entire intron could be retained and form part of the 3ʹUTR sequence. D Schematic of predicted motifs within the canonical human CDC45 3ʹUTR, with PhyloP scores of ARE and polyA sites. The intronic predicted HuR site in the human intron is also indicated (purple).

Techniques: Variant Assay, Sequencing

A Clustal Omega alignment of eukaryotic CDC45 protein sequence coloured by percentage identity shows Val97 is well conserved through to fungi. B Val97 is located in the protein core and within the parallel β-sheet (cyan) of α/β domain II. C Zoomed in image of the red box highlighted in B. showing wildtype Val97 sidechain (red sticks) is positioned in a hydrophobic pocket near conserved Asp99 and His101 residues (green sticks), corresponding to the catalytic residues in RecJ orthologues. Asp-His hydrogen bonds are represented as black dashes. D Wildtype Val97 sidechain forms stabilising hydrophobic contacts (dashes) within the β-sheet secondary structure (cyan), as well as to Asp99 (green), and to the β3-α4 loop (yellow) which harbors Asp76, the residue affected by a previously established pathogenic variant. E Mutagenesis modelling of the p.Val97Ala substitution (magenta) causes the loss of the Val97 sidechain specific hydrophobic contacts shown in D.

Journal: European Journal of Human Genetics

Article Title: A second hotspot for pathogenic exon-skipping variants in CDC45

doi: 10.1038/s41431-024-01583-1

Figure Lengend Snippet: A Clustal Omega alignment of eukaryotic CDC45 protein sequence coloured by percentage identity shows Val97 is well conserved through to fungi. B Val97 is located in the protein core and within the parallel β-sheet (cyan) of α/β domain II. C Zoomed in image of the red box highlighted in B. showing wildtype Val97 sidechain (red sticks) is positioned in a hydrophobic pocket near conserved Asp99 and His101 residues (green sticks), corresponding to the catalytic residues in RecJ orthologues. Asp-His hydrogen bonds are represented as black dashes. D Wildtype Val97 sidechain forms stabilising hydrophobic contacts (dashes) within the β-sheet secondary structure (cyan), as well as to Asp99 (green), and to the β3-α4 loop (yellow) which harbors Asp76, the residue affected by a previously established pathogenic variant. E Mutagenesis modelling of the p.Val97Ala substitution (magenta) causes the loss of the Val97 sidechain specific hydrophobic contacts shown in D.

Techniques: Sequencing, Residue, Variant Assay, Mutagenesis

Genetic details of CDC45 variants identified in this study.

Journal: European Journal of Human Genetics

Article Title: A second hotspot for pathogenic exon-skipping variants in CDC45

doi: 10.1038/s41431-024-01583-1

Figure Lengend Snippet: Genetic details of CDC45 variants identified in this study.

Techniques: Variant Assay

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