{"doi":"10.1016/j.ymgme.2006.10.010","title":"Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human Succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene","abstract":null,"journal":"Molecular Genetics and Metabolism","year":2007,"id":603963,"datarank":0.4493598410330987,"base_score":2.995732273553991,"endowment":2.995732273553991,"self_citation_contribution":0.4493598410330987,"citation_network_contribution":0.0,"self_endowment_contribution":0.4493598410330987,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":19,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":171139,"name":"Toshiyuki Fukao","orcid":null,"position":1,"is_corresponding":false},{"id":1549471,"name":"Gaixiu Zhang","orcid":null,"position":2,"is_corresponding":false},{"id":1549472,"name":"Satomi Sakurai","orcid":null,"position":3,"is_corresponding":false},{"id":355059,"name":"Jos P.N. Ruiter","orcid":null,"position":4,"is_corresponding":false},{"id":1549473,"name":"Ronald J.A. Wanders","orcid":null,"position":5,"is_corresponding":false},{"id":128353,"name":"Naomi Kondo","orcid":null,"position":6,"is_corresponding":false},{"id":1549468,"name":"Keitaro Yamada","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human Succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene","abstract":"Succinyl-CoA:3-ketoacid CoA transferase (SCOT, EC 2.8.3.5) is the key enzyme for ketone body utilization. Hereditary SCOT deficiency (MIM 245050) causes episodes of severe ketoacidosis. We identified a homozygous point mutation (c.671G>A) , which is a single-base substitution at the last nucleotide of exon 6, in a Turkish patient (GS12) with SCOT deficiency. This point mutation resulted in the skipping of exon 6, and exons 6 and 7 in human SCOT genes. To understand why the c.671G>A causes exons 6 and 7 skipping, nuclear RNA was separated from cytoplasmic RNA and both were analyzed by RT-PCR. In nuclear RNA, SCOT mRNA with exon 6 skipping was predominant and mRNA with exons 6 and 7 skipping was hardly detected, whereas the latter became one of major mRNA species in cytoplasmic RNA. This discrepancy was interpreted as follows: exon 6 skipping causes a frameshift and nonsense-mediated RNA decay in the cytosol, so mRNA with exon 6 skipping was unstable. On the other hand, SCOT mRNA with exons 6 and 7 is a minor transcript but it retains the reading-frame and is stable in cytosol. As a result, the latter mRNA is more abundant under steady-state conditions as compared to the former mRNA.","is_dataset_classified":null,"base_score":2.995732273553991,"endowment":2.995732273553991,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"17169596","pmcid":null,"openalex_id":"https://openalex.org/W2070482595","authors":[],"funders":[],"total_grants":0,"fwci":0.2541,"citation_percentile":0.55367945,"influential_citations":0,"citation_trend":[{"year":2012,"count":1},{"year":2013,"count":2},{"year":2014,"count":3},{"year":2015,"count":1},{"year":2017,"count":2},{"year":2021,"count":1},{"year":2023,"count":1},{"year":2024,"count":1}],"oa_status":"closed","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S1096719206003568?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1096719206003568?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.ymgme.2006.10.010","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/17169596","host_type":"repository"},{"url":"https://pure.amsterdamumc.nl/en/publications/2373998e-c8c9-4ced-becc-533a96a2381f","host_type":"repository"},{"url":"https://pure.amc.nl/en/publications/singlebase-substitution-at-the-last-nucleotide-of-exon-6-c671ga-resulting-in-the-skipping-of-exon-6-and-exons-6-and-7-in-human-succinylcoa3ketoacid-coa-transferase-scot-gene(efbcb754-2c6e-467b-8493-63095bddd4ba).html","host_type":"repository"}],"fields_of_study":["RNA modifications and cancer","RNA Research and Splicing","Genetic factors in colorectal cancer"],"mesh_terms":["Acidosis","Base Sequence","Child, Preschool","DNA","Exons","Female","Humans","RNA Splicing","RNA, Messenger","Coenzyme A-Transferases","Point Mutation","DNA Primers","RNA Stability"],"keywords":["Exon","Exon skipping","Exon trapping","Frameshift mutation","Molecular biology","Exon shuffling","Biology","RNA","Point mutation","Messenger RNA","Nonsense mutation","Tandem exon duplication","Genetics","Alternative splicing","Mutation","Gene","Missense mutation"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-29T23:06:23.674307Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}