ArticleHuman genetics1994
Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 51 citations in OpenAlex.
- Protein C-terminal variations impact proteostasis.Nature communications · 2026Article
- PAX Family, Master Regulator in Cancer.Diagnostics (Basel, Switzerland) · 2025Review
- Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease.Human genetics · 2021Review
- Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.The Journal of molecular diagnostics : JMD · 2018Article
- Depletion of Pax7+ satellite cells does not affect diaphragm adaptations to running in young or aged mice.The Journal of physiology · 2017Article
- Pax3 isoforms in sensory neurogenesis: expression and function in the ophthalmic trigeminal placode.Developmental dynamics : an official publication of the American Association of Anatomists · 2014Article
- PAX3 in neuroblastoma: oncogenic potential, chemosensitivity and signalling pathways.Journal of cellular and molecular medicine · 2014Article
- Melanoma biomolecules: independently identified but functionally intertwined.Frontiers in oncology · 2013Review
- Oesophageal and sternohyal muscle fibres are novel Pax3-dependent migratory somite derivatives essential for ingestion.Development (Cambridge, England) · 2013Article
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- Pax genes in embryogenesis and oncogenesis.Journal of cellular and molecular medicine · 2008Review
- The evolution of alternative splicing in the Pax family: the view from the Basal chordate amphioxus.Journal of molecular evolution · 2008Article
- Dominant negative murine serum response factor: alternative splicing within the activation domain inhibits transactivation of serum response factor binding targets.Molecular and cellular biology · 1999Article
- The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).Journal of medical genetics · 1997Review
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have isolated two isoforms of cDNA clones from the human PAX3 gene, a candidate gene responsible for Waardenburg syndrome type I (WSI) as well as a gene associated with development of alveolar rhabdomyosarcoma. The gene product is considered to be one of transcription factors, and the two cDNA clones isolated, termed PAX3A and PAX3B, were generated by alternative splicing. The transcripts coded 215 and 206 amino acids, respectively, and shared 196 amino acids at the NH2 end. The amino acid sequence in the common region (residues 1-196) showed a 100% identity with that of exons 1-4 of the mouse Pax-3 gene. However, both of the PAX3 cDNAs lacked the DNA sequence corresponding to the paired-type homeodomain of the mouse Pax-3 gene. Analysis of gene expression in human adult tissues by reverse transcriptase polymerase chain reaction (RT-PCR) revealed tissue-specific expression of this gene. PAX3B was expressed in most of the tissues examined, but the PAX3A type of transcript was detected only in the cerebellum, esophagus, and skeletal muscle.
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