{"doi":"10.1515/bc.2007.041","title":"Characterisation of novel splicing variants of the tyrosine hydroxylase C-terminal domain in human neuroblastic tumours","abstract":"<jats:title>Abstract</jats:title><jats:p>Alternative splicing of human tyrosine hydroxylase (hTH) transcripts appears to occur mainly in the N-terminal domain, giving rise to at least eight different isoforms. We recently reported the existence of hTH transcript variants resulting from splicing of exons 8 and 9, within a region previously thought to be constant. The mRNA distribution of these novel hTH isoforms in neuroblastic tumours and in foetal adrenal glands was analysed by conventional and real-time RT-PCR. The presence of the target protein was determined by Western blotting, immunoprecipitation and protein analysis. Transcripts lacking exons 8 and 9 were widely distributed in the tissues analysed. Characterisation of full-length mRNA revealed that splicing of exons 8 and 9 was always associated with splicing of exons 2 (hTH-Δ2,8,9) or 1b and 2 (hTH-Δ1b,2,8,9). In addition, one variant detected on Western blots in several tumours fits the predicted size (58 kDa) of the isoforms lacking exons 8 and 9. In conclusion, the two novel isoforms reported here (hTH-Δ2,8,9 and hTH-Δ1b,2,8,9) represent the first full-length isoforms with alternative splicing in the hTH C-terminal domain. These results demonstrate for the first time the existence of hTH isoforms Δ2,8,9 and Δ1b,2,8,9. Their general distribution in neuroblastoma and adrenal glands and translation into protein suggest a significant functional role for these novel hTH isoforms, which merit further study.</jats:p>","journal":"Biological Chemistry","year":2007,"id":18372,"datarank":0.25802459506496667,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"self_citation_contribution":0.20794415416798362,"citation_network_contribution":0.05008044089698302,"self_endowment_contribution":0.20794415416798362,"citer_contribution":0.05008044089698302,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":3,"citers_with_citation_signal":3,"citers_with_endowment":3,"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":127947,"name":"Ester Saus","orcid":null,"position":1,"is_corresponding":false},{"id":127948,"name":"Marc Cuadros","orcid":null,"position":2,"is_corresponding":false},{"id":127949,"name":"Jaume Reventós","orcid":null,"position":3,"is_corresponding":false},{"id":127950,"name":"Josep Sánchez de Toledo","orcid":null,"position":4,"is_corresponding":false},{"id":127951,"name":"Soledad Gallego","orcid":null,"position":5,"is_corresponding":false},{"id":127946,"name":"Josep Roma","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"17391063","pmcid":null,"openalex_id":"https://openalex.org/W2053656597","authors":[],"funders":[],"total_grants":0,"fwci":0.0,"citation_percentile":0.14968498,"influential_citations":0,"citation_trend":[{"year":2012,"count":1},{"year":2014,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"http://www.degruyter.com/view/j/bchm.2007.388.issue-4/bc.2007.041/bc.2007.041.xml","host_type":"publisher"},{"url":"https://www.degruyter.com/document/doi/10.1515/BC.2007.041/pdf","host_type":"publisher"},{"url":"https://doi.org/10.1515/bc.2007.041","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/17391063","host_type":"repository"}],"fields_of_study":["Neuroblastoma Research and Treatments","Metabolism and Genetic Disorders","Biochemical and Molecular Research","Medicine","Biology","Adolescent","Alternative Splicing","Blotting, Western","Child","Child, Preschool","Exons","HeLa Cells","Humans","Infant","Infant, Newborn","Isoenzymes","Neuroblastoma","Protein Structure, Tertiary","Recombinant Proteins","Reverse Transcriptase Polymerase Chain Reaction","Tyrosine 3-Monooxygenase"],"mesh_terms":["Adolescent","Child","Child, Preschool","Exons","HeLa Cells","Humans","Infant","Infant, Newborn","Isoenzymes","Neuroblastoma","Recombinant Proteins","Tyrosine 3-Monooxygenase","Blotting, Western","Alternative Splicing","Protein Structure, Tertiary","Reverse Transcriptase Polymerase Chain Reaction","Hela Cells"],"keywords":["Exon","Gene isoform","Alternative splicing","RNA splicing","Biology","Messenger RNA","Molecular biology","Blot","Protein isoform","Tyrosine","Gene","Tyrosine hydroxylase","Immunoprecipitation","Genetics","RNA","Biochemistry","Enzyme"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-03T21:15:44.724577Z","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":[]}