Abstract
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 language | English |
|---|---|
| Pages (from-to) | 287-297 |
| Number of pages | 11 |
| Journal | Gene |
| Volume | 291 |
| Issue number | 1-2 |
| DOIs | |
| Publication status | Published - 2002 May 29 |
| Externally published | Yes |
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Keywords
- Genomic imprinting
- Guanine nucleotide exchange factors
- Rasgrf1
ASJC Scopus subject areas
- Genetics
Cite this
Structural characterization of Rasgrf1 and a novel linked imprinted locus. / De la Puente, Aránzazu; Hall, Julia; Wu, Yue Zhong; Leone, Gustavo; Peters, Jo; Yoon, Bongjune; Soloway, Paul; Plass, Christoph.
In: Gene, Vol. 291, No. 1-2, 29.05.2002, p. 287-297.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Structural characterization of Rasgrf1 and a novel linked imprinted locus
AU - De la Puente, Aránzazu
AU - Hall, Julia
AU - Wu, Yue Zhong
AU - Leone, Gustavo
AU - Peters, Jo
AU - Yoon, Bongjune
AU - Soloway, Paul
AU - Plass, Christoph
PY - 2002/5/29
Y1 - 2002/5/29
N2 - 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.
AB - 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.
KW - Genomic imprinting
KW - Guanine nucleotide exchange factors
KW - Rasgrf1
UR - http://www.scopus.com/inward/record.url?scp=0037193659&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0037193659&partnerID=8YFLogxK
U2 - 10.1016/S0378-1119(02)00601-7
DO - 10.1016/S0378-1119(02)00601-7
M3 - Article
C2 - 12095702
AN - SCOPUS:0037193659
VL - 291
SP - 287
EP - 297
JO - Gene
JF - Gene
SN - 0378-1119
IS - 1-2
ER -