Functional Polymorphism in the Parental Imprinting of the Human IGF2R Gene
The murine genes coding for insulin-like growth factor II (Igf2) and its specific receptor (Igf2r) are parentally imprinted, with exclusive expression from the paternal (Igf2) or maternal (Igf2r) gene copy. We have demonstrated that the human IGF2 gene is imprinted, like its murine homologue. To exa...
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| Veröffentlicht in: | Biochemical and biophysical research communications 1993-12, Vol.197 (2), p.747-754 |
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| container_title | Biochemical and biophysical research communications |
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| creator | Xu, Y.Q. Goodyer, C.G. Deal, C. Polychronakos, C. |
| description | The murine genes coding for insulin-like growth factor II (Igf2) and its specific receptor (Igf2r) are parentally imprinted, with exclusive expression from the paternal (Igf2) or maternal (Igf2r) gene copy. We have demonstrated that the human IGF2 gene is imprinted, like its murine homologue. To examine whether the human IGF2R is also imprinted, we used CA repeat polymorphisms of the cDNA sequence to distinguish expression from each copy. Unlike the mouse, most subjects equally expressed both gene copies. However, two out of 14 informative fetuses showed exclusive expression from the maternal gene copy. We conclude that the human IGF2R gene is parentally imprinted, like its murine homologue, but only in a minority of individuals. This is the first direct demonstration of imprinting as a polymorphic trait, a property that had been observed in transgene methylation and predicted from the behavior of certain human tumors. |
| doi_str_mv | 10.1006/bbrc.1993.2542 |
| format | Article |
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We have demonstrated that the human IGF2 gene is imprinted, like its murine homologue. To examine whether the human IGF2R is also imprinted, we used CA repeat polymorphisms of the cDNA sequence to distinguish expression from each copy. Unlike the mouse, most subjects equally expressed both gene copies. However, two out of 14 informative fetuses showed exclusive expression from the maternal gene copy. We conclude that the human IGF2R gene is parentally imprinted, like its murine homologue, but only in a minority of individuals. This is the first direct demonstration of imprinting as a polymorphic trait, a property that had been observed in transgene methylation and predicted from the behavior of certain human tumors.</description><identifier>ISSN: 0006-291X</identifier><identifier>EISSN: 1090-2104</identifier><identifier>DOI: 10.1006/bbrc.1993.2542</identifier><identifier>PMID: 8267611</identifier><identifier>CODEN: BBRCA9</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Animals ; Base Sequence ; Biological and medical sciences ; Classical genetics, quantitative genetics, hybrids ; DNA - isolation & purification ; DNA - metabolism ; DNA Primers ; Female ; Fetus ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. Biological and molecular evolution ; Heterozygote ; Hominidae - genetics ; Human ; Humans ; Insulin-Like Growth Factor II - biosynthesis ; Insulin-Like Growth Factor II - genetics ; Male ; Mice ; Molecular Sequence Data ; Placenta - metabolism ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Pregnancy ; Receptor, IGF Type 2 - biosynthesis ; Receptor, IGF Type 2 - genetics ; Sequence Deletion</subject><ispartof>Biochemical and biophysical research communications, 1993-12, Vol.197 (2), p.747-754</ispartof><rights>1993 Academic Press</rights><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c479t-25a0ede29ff19d7c2a3d804a6b2a1f4dc0f905a13ad33c6277b8232d98ca36b13</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0006291X83725428$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3839017$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8267611$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Xu, Y.Q.</creatorcontrib><creatorcontrib>Goodyer, C.G.</creatorcontrib><creatorcontrib>Deal, C.</creatorcontrib><creatorcontrib>Polychronakos, C.</creatorcontrib><title>Functional Polymorphism in the Parental Imprinting of the Human IGF2R Gene</title><title>Biochemical and biophysical research communications</title><addtitle>Biochem Biophys Res Commun</addtitle><description>The murine genes coding for insulin-like growth factor II (Igf2) and its specific receptor (Igf2r) are parentally imprinted, with exclusive expression from the paternal (Igf2) or maternal (Igf2r) gene copy. We have demonstrated that the human IGF2 gene is imprinted, like its murine homologue. To examine whether the human IGF2R is also imprinted, we used CA repeat polymorphisms of the cDNA sequence to distinguish expression from each copy. Unlike the mouse, most subjects equally expressed both gene copies. However, two out of 14 informative fetuses showed exclusive expression from the maternal gene copy. We conclude that the human IGF2R gene is parentally imprinted, like its murine homologue, but only in a minority of individuals. This is the first direct demonstration of imprinting as a polymorphic trait, a property that had been observed in transgene methylation and predicted from the behavior of certain human tumors.</description><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>DNA - isolation & purification</subject><subject>DNA - metabolism</subject><subject>DNA Primers</subject><subject>Female</subject><subject>Fetus</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Heterozygote</subject><subject>Hominidae - genetics</subject><subject>Human</subject><subject>Humans</subject><subject>Insulin-Like Growth Factor II - biosynthesis</subject><subject>Insulin-Like Growth Factor II - genetics</subject><subject>Male</subject><subject>Mice</subject><subject>Molecular Sequence Data</subject><subject>Placenta - metabolism</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Pregnancy</subject><subject>Receptor, IGF Type 2 - biosynthesis</subject><subject>Receptor, IGF Type 2 - genetics</subject><subject>Sequence Deletion</subject><issn>0006-291X</issn><issn>1090-2104</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kD1PwzAQhi0EKqWwsiFlQGwp_moSjwjRD1SJCoHEZjn2hRolTrETpP57XFp1Y7rhfe7V3YPQNcFjgnF2X5Zej4kQbEwnnJ6gIcECp5RgfoqGOBIpFeTjHF2E8IUxITwTAzQoaJZnhAzR87R3urOtU3Wyautt0_rN2oYmsS7p1pCslAfXxXDRbLx1nXWfSVv9RfO-US5ZzKb0NZmBg0t0Vqk6wNVhjtD79OntcZ4uX2aLx4dlqnkuupROFAYDVFQVESbXVDFTYK6ykipScaNxJfBEEaYMYzqjeV4WlFEjCq1YVhI2Qnf73o1vv3sInWxs0FDXykHbBxkf45RzFsHxHtS-DcFDJeMLjfJbSbDcyZM7eXInT-7kxYWbQ3NfNmCO-MFWzG8PuQpa1ZVXTttwxFjBBCZ5xIo9BtHCjwUvg7bgNBjrQXfStPa_C34Bt6CJvg</recordid><startdate>19931215</startdate><enddate>19931215</enddate><creator>Xu, Y.Q.</creator><creator>Goodyer, C.G.</creator><creator>Deal, C.</creator><creator>Polychronakos, C.</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19931215</creationdate><title>Functional Polymorphism in the Parental Imprinting of the Human IGF2R Gene</title><author>Xu, Y.Q. ; Goodyer, C.G. ; Deal, C. ; Polychronakos, C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c479t-25a0ede29ff19d7c2a3d804a6b2a1f4dc0f905a13ad33c6277b8232d98ca36b13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>DNA - isolation & purification</topic><topic>DNA - metabolism</topic><topic>DNA Primers</topic><topic>Female</topic><topic>Fetus</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Heterozygote</topic><topic>Hominidae - genetics</topic><topic>Human</topic><topic>Humans</topic><topic>Insulin-Like Growth Factor II - biosynthesis</topic><topic>Insulin-Like Growth Factor II - genetics</topic><topic>Male</topic><topic>Mice</topic><topic>Molecular Sequence Data</topic><topic>Placenta - metabolism</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Pregnancy</topic><topic>Receptor, IGF Type 2 - biosynthesis</topic><topic>Receptor, IGF Type 2 - genetics</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Xu, Y.Q.</creatorcontrib><creatorcontrib>Goodyer, C.G.</creatorcontrib><creatorcontrib>Deal, C.</creatorcontrib><creatorcontrib>Polychronakos, C.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Biochemical and biophysical research communications</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Xu, Y.Q.</au><au>Goodyer, C.G.</au><au>Deal, C.</au><au>Polychronakos, C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Functional Polymorphism in the Parental Imprinting of the Human IGF2R Gene</atitle><jtitle>Biochemical and biophysical research communications</jtitle><addtitle>Biochem Biophys Res Commun</addtitle><date>1993-12-15</date><risdate>1993</risdate><volume>197</volume><issue>2</issue><spage>747</spage><epage>754</epage><pages>747-754</pages><issn>0006-291X</issn><eissn>1090-2104</eissn><coden>BBRCA9</coden><abstract>The murine genes coding for insulin-like growth factor II (Igf2) and its specific receptor (Igf2r) are parentally imprinted, with exclusive expression from the paternal (Igf2) or maternal (Igf2r) gene copy. We have demonstrated that the human IGF2 gene is imprinted, like its murine homologue. To examine whether the human IGF2R is also imprinted, we used CA repeat polymorphisms of the cDNA sequence to distinguish expression from each copy. Unlike the mouse, most subjects equally expressed both gene copies. However, two out of 14 informative fetuses showed exclusive expression from the maternal gene copy. We conclude that the human IGF2R gene is parentally imprinted, like its murine homologue, but only in a minority of individuals. This is the first direct demonstration of imprinting as a polymorphic trait, a property that had been observed in transgene methylation and predicted from the behavior of certain human tumors.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>8267611</pmid><doi>10.1006/bbrc.1993.2542</doi><tpages>8</tpages></addata></record> |
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| ispartof | Biochemical and biophysical research communications, 1993-12, Vol.197 (2), p.747-754 |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Animals Base Sequence Biological and medical sciences Classical genetics, quantitative genetics, hybrids DNA - isolation & purification DNA - metabolism DNA Primers Female Fetus Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Heterozygote Hominidae - genetics Human Humans Insulin-Like Growth Factor II - biosynthesis Insulin-Like Growth Factor II - genetics Male Mice Molecular Sequence Data Placenta - metabolism Polymerase Chain Reaction Polymorphism, Genetic Pregnancy Receptor, IGF Type 2 - biosynthesis Receptor, IGF Type 2 - genetics Sequence Deletion |
| title | Functional Polymorphism in the Parental Imprinting of the Human IGF2R Gene |
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