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

J Hum Genet. 1999;44(1):1-9. doi: 10.1007/s100380050096.

Abstract

Using a repetitive sequence of tandemly arrayed pentanucleotides in the human H19 3'-flanking region, we isolated a phage clone (lambda PEN11) which localized to chromosome 11p15.5. The lambda 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • DNA Primers / genetics
  • Female
  • Gene Expression
  • Genomic Imprinting*
  • Humans
  • Male
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Muscle Proteins / genetics
  • Placenta / metabolism*
  • Pregnancy
  • RNA, Long Noncoding
  • RNA, Untranslated*

Substances

  • DNA Primers
  • H19 long non-coding RNA
  • Muscle Proteins
  • RNA, Long Noncoding
  • RNA, Untranslated