GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placenta
The GATM gene encodes L-arginine:glycine amidinotransferase, which catalyzes the conversion of L-arginine into guanidinoacetate, the rate-limiting step in the synthesis of creatine. Since, deficiencies in creatine synthesis and transport lead to certain forms of mental retardation in human, the huma...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2005-03-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100008 |
| _version_ | 1819106459370127360 |
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| author | Toshinobu Miyamoto Kazuo Sengoku Hiroaki Hayashi Yoshihito Sasaki Yoshihiro Jinno Mutsuo Ishikawa |
| author_facet | Toshinobu Miyamoto Kazuo Sengoku Hiroaki Hayashi Yoshihito Sasaki Yoshihiro Jinno Mutsuo Ishikawa |
| author_sort | Toshinobu Miyamoto |
| collection | DOAJ |
| description | The GATM gene encodes L-arginine:glycine amidinotransferase, which catalyzes the conversion of L-arginine into guanidinoacetate, the rate-limiting step in the synthesis of creatine. Since, deficiencies in creatine synthesis and transport lead to certain forms of mental retardation in human, the human GATM gene appears to be involved in brain development. Recently it has been demonstrated that the mouse Gatm is expressed during development and is imprinted with maternal expression in the placenta and yolk sac, but not in embryonic tissues. We investigated the imprinting status of the human GATM by analyzing its expression in four human placentas. GATM was biallelically expressed, thus suggesting that this gene escapes genomic imprinting in placentas, differently from what has been reported in mouse extra-embryonic tissues. |
| first_indexed | 2024-12-22T02:38:29Z |
| format | Article |
| id | doaj.art-f8fdb4e022c44d8db942b7a53488d2a2 |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-12-22T02:38:29Z |
| publishDate | 2005-03-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-f8fdb4e022c44d8db942b7a53488d2a22022-12-21T18:41:43ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852005-03-01281444510.1590/S1415-47572005000100008GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placentaToshinobu MiyamotoKazuo SengokuHiroaki HayashiYoshihito SasakiYoshihiro JinnoMutsuo IshikawaThe GATM gene encodes L-arginine:glycine amidinotransferase, which catalyzes the conversion of L-arginine into guanidinoacetate, the rate-limiting step in the synthesis of creatine. Since, deficiencies in creatine synthesis and transport lead to certain forms of mental retardation in human, the human GATM gene appears to be involved in brain development. Recently it has been demonstrated that the mouse Gatm is expressed during development and is imprinted with maternal expression in the placenta and yolk sac, but not in embryonic tissues. We investigated the imprinting status of the human GATM by analyzing its expression in four human placentas. GATM was biallelically expressed, thus suggesting that this gene escapes genomic imprinting in placentas, differently from what has been reported in mouse extra-embryonic tissues.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100008GATM genegenomic imprintingDNA polymorphism |
| spellingShingle | Toshinobu Miyamoto Kazuo Sengoku Hiroaki Hayashi Yoshihito Sasaki Yoshihiro Jinno Mutsuo Ishikawa GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placenta Genetics and Molecular Biology GATM gene genomic imprinting DNA polymorphism |
| title | GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placenta |
| title_full | GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placenta |
| title_fullStr | GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placenta |
| title_full_unstemmed | GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placenta |
| title_short | GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placenta |
| title_sort | gatm the human ortholog of the mouse imprinted gatm gene escapes genomic imprinting in placenta |
| topic | GATM gene genomic imprinting DNA polymorphism |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100008 |
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