Human Genetics

, Volume 93, Issue 3, pp 270–274 | Cite as

Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues

  • Kazuhiro Tsukamoto
  • Yusuke Nakamura
  • Norio Niikawa
Original Investigations


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.


Alternative Splice Gene Transcript cDNA Clone Reverse Transcriptase Polymerase Chain Reaction Rhabdomyosarcoma 
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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Kazuhiro Tsukamoto
    • 1
    • 2
  • Yusuke Nakamura
    • 1
  • Norio Niikawa
    • 2
  1. 1.Department of BiochemistryCancer InstituteTokyoJapan
  2. 2.Department of Human GeneticsNagasaki University School of MedicineNagasakiJapan

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