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Journal of the Society for Gynecologic Investigation
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Novel Human Alpha-Fetoprotein mRNA Isoform Lacking Exon 1 Identified in Ovarian Yolk Sac Tumor

Hiroko Fukasaw, MD, PhD

Hideki Iwamoto, MD, PhD

Department of Obstetrics and Gynecology, and Biology Laboratory, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi; Department of Biochemistry, Hokkaido University School of Medicine, Hokkaido, Japan

Shuji Hirata, MD, PhD

Department of Biochemistry, Hokkaido University School of Medicine, Hokkaido, Japan; Department of Obstetrics and Gynecology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Shimokato 1110, Tamaho, Nakakoma, Yamanashi, 409-3898, Japan shirata{at}yamanashi.ac.jp

Tomoko Shoda, MD, PhD

Sadaki Yokota, PhD

Shinzo Nishi, MD, PhD

Kazuhiko Hoshi, Md, PhD

Department of Obstetrics and Gynecology, and Biology Laboratory, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi; Department of Biochemistry, Hokkaido University School of Medicine, Hokkaido, Japan

Objective: Alpha-fetoprotein (AFP) is a major fetal serum protein, the biologic role of which has not been not fully elucidated. Recently, existence of a novel AFP mRNA isoform (del. 1 AFP mRNA isoform), which is transcribed from the intron A (the intron between exons 1 and 2), has been reported in murine yolk sac and fetal liver. In the present study, we intended to identify the human homologue of the nurine AFP mRNA isoform in the yolk sac tumor.

Methods: To investigate the existence of the mRNA isoform (which we termed the "AFP-C mRNA isoform"), reverse transcription-polymerase chain reaction (RT-PCR) was used. Moreover, the expression analysis of the AFP-C cDNA isoform using the AFP-negative human cell line was carried out.

Results: RT-PCR revealed the existence of the AFP-C mRNA isoform in the yolk sac tumor and human hepatocellular carcinoma cells. The expression analysis clarified that the molecular size of the AFP-C was approximately 65 kd, and that the protein was not secreted, in contrast to the traditional AFP.

Conclusion: From these results, the existence of the AFP-C mRNA isoform has been demonstrated for the first time in humans. The AFP-C located in cytoplasm possibly plays physiologic/pathogenic roles distinct from those of the traditional AFP in the yolk sac tumor and hepatocellular carcinoma.

Key Words: Alpha-fetoprotein (AFP) mRNA • AFP-C mRNA isoform • exon C • human • yolk sac tumor

Journal of the Society for Gynecologic Investigation, Vol. 12, No. 6, 456-462 (2005)
DOI: 10.1016/j.jsgi.2005.04.003
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