Structural characterization of Rasgrf1 and a novel linked imprinted locus

Aránzazu De la Puente, Julia Hall, Yue Zhong Wu, Gustavo Leone, Jo Peters, Bong June Yoon, Paul Soloway, Christoph Plass

Research output: Contribution to journalArticlepeer-review

31 Citations (Scopus)


Imprinted genes in mammals are expressed either from the maternally or the paternally inherited allele. Previously, a genome wide scan identified novel imprinted genes based on their association with differentially methylated regions (DMRs). One of the identified genes, Rasgrf1, showed paternal expression in neonatal brain and was located on mouse chromosome 9. This gene is associated with a DMR, located about 30 kb upstream of Rasgrf1 exon 1. In order to better understand and identify novel elements involved in the regulation of this gene we have isolated and characterized genomic clones coding for mouse and human Rasgrf1 and RASGRF1, respectively. The mouse gene consists of 26 exons spanning approximately 140 kb of genomic DNA while the human gene has 28 exons. The human gene has an additional 39 bp exon inserted between exons 13 and 14 and exon 18 is split in two separate exons in human. The major transcription start site of Rasgrf1, as identified by primer extension, is 1324 bp upstream of the ATG translation start codon. Finally, a genomic region upstream of exon 1, spanning 489 bp, was determined to posses the essential promoter activity for Rasgrf1 gene. A second gene, A19, located 10 kb upstream of the DMR has been characterized. A19 is mainly expressed in testis and at lower levels in neonatal and adult brain tissue. The A19 transcript is non-coding and expressed in mouse testis and brain. A19 is imprinted with expression occurring from just the paternal allele in brain.

Original languageEnglish
Pages (from-to)287-297
Number of pages11
Issue number1-2
Publication statusPublished - 2002 May 29
Externally publishedYes

Bibliographical note

Funding Information:
The authors would like to thank Dr Smiraglia for critically reading the manuscript. This work was supported in part by grants P30 CA16058 and GM58269 (C.P.) from the National Institutes of Health, Bethesda, MD. The authors thank the Genome Science Center at RIKEN, Japan, for the mouse full-length cDNA clone Accession number: AK015891.


  • Genomic imprinting
  • Guanine nucleotide exchange factors
  • Rasgrf1

ASJC Scopus subject areas

  • Genetics


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