Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta

doi:doi:10.1007/s100380050096

Journal of Human Genetics (1999) 44, 1–9; doi:10.1007/s100380050096

Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta

Kiyonori Miura^1,2, Osamu Miyoshi¹, Kankatsu Yun³, Johji Inazawa⁴, Toshinobu Miyamoto⁵, Hiroaki Hayashi⁵, Hideaki Masuzaki², Shuichiro Yoshimura², Norio Niikawa¹, Yoshihiro Jinno¹ and Tadayuki Ishimaru²

¹Department of Human Genetics, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan
²Department of Obstetrics and Gynecology, Nagasaki University School of Medicine, Nagasaki, Japan
³Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
⁴Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan
⁵Department of Obstetrics and Gynecology, Asahikawa Medical College, Asahikawa, Japan

Correspondence: Yoshihiro Jinno, Department of Human Genetics, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan. Fax: +81-95-849-7121. E-mail: siriusyj@net.nagasaki-u.ac.jp

Received 24 July 1998; Accepted 31 August 1998.

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Abstract

Using a repetitive sequence of tandemly arrayed pentanucleotides in the human H19 3'-flanking region, we isolated a phage clone ( gamma PEN11) which localized to chromosome 11p15.5. The gamma PEN11 phage encodes a 2.3-kb cDNA consisting of seven exons at least. The gene was mainly expressed in brain and pancreas (and less abundantly in testis), and demonstrated differential allele usage, with maternal expression being predominant in placenta, which indicates the gene is an atypical imprinted gene. While the pentamer repeat might contribute to this effect, it is also possible that the differential allele usage might reflect the local chromosomal structure known as the imprinting domain.