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Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting
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| Zeitschriftentitel: | Genome Research |
|---|---|
| Personen und Körperschaften: | , , , , , , , , |
| In: | Genome Research, 10, 2000, 12, S. 1878-1889 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Cold Spring Harbor Laboratory
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| Schlagwörter: |
| author_facet |
Okamura, Kohji Hagiwara-Takeuchi, Yuriko Li, Tao Vu, Thanh H. Hirai, Momoki Hattori, Masahira Sakaki, Yoshiyuki Hoffman, Andrew R. Ito, Takashi Okamura, Kohji Hagiwara-Takeuchi, Yuriko Li, Tao Vu, Thanh H. Hirai, Momoki Hattori, Masahira Sakaki, Yoshiyuki Hoffman, Andrew R. Ito, Takashi |
|---|---|
| author |
Okamura, Kohji Hagiwara-Takeuchi, Yuriko Li, Tao Vu, Thanh H. Hirai, Momoki Hattori, Masahira Sakaki, Yoshiyuki Hoffman, Andrew R. Ito, Takashi |
| spellingShingle |
Okamura, Kohji Hagiwara-Takeuchi, Yuriko Li, Tao Vu, Thanh H. Hirai, Momoki Hattori, Masahira Sakaki, Yoshiyuki Hoffman, Andrew R. Ito, Takashi Genome Research Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting Genetics (clinical) Genetics |
| author_sort |
okamura, kohji |
| spelling |
Okamura, Kohji Hagiwara-Takeuchi, Yuriko Li, Tao Vu, Thanh H. Hirai, Momoki Hattori, Masahira Sakaki, Yoshiyuki Hoffman, Andrew R. Ito, Takashi 1088-9051 1549-5469 Cold Spring Harbor Laboratory Genetics (clinical) Genetics http://dx.doi.org/10.1101/gr.139200 <jats:p>Mouse<jats:italic>Impact</jats:italic>is a paternally expressed gene encoding an evolutionarily conserved protein of unknown function. Here we identified<jats:italic>IMPACT</jats:italic>, the human homolog of<jats:italic>Impact</jats:italic>, on chromosome 18q11.2–12.1, a region syntenic to the mouse<jats:italic>Impact</jats:italic>locus.<jats:italic>IMPACT</jats:italic>was expressed biallelically in brain and in various tissues from two informative fetuses and in peripheral blood from an informative adult. To reveal the structural basis for the difference in allelic expression between the two species, we elucidated complete genome sequences for both mouse<jats:italic>Impact</jats:italic>(∼38 kb) and human<jats:italic>IMPACT</jats:italic>(∼30 kb). Sequence comparison revealed that the two genes share a well-conserved exon–intron organization but bear significantly different CpG islands. The mouse island lies in the first intron and contains characteristic tandem repeats. Furthermore, this island serves as a differentially methylated region (DMR) consisting of a hypermethylated maternal allele and an unmethylated paternal allele. Intriguingly, this intronic island is missing from the nonimprinted human<jats:italic>IMPACT</jats:italic>, whose sole CpG island spans the first exon, lacks any apparent repeats, and escapes methylation on both chromosomes. These results suggest that the intronic DMR plays a role in the imprinting of<jats:italic>Impact</jats:italic>.</jats:p><jats:p>[The sequence data described in this paper have been submitted to the DDBJ/EMBL/GenBank data library under accession nos.<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AB026264" ext-link-type="gen" xlink:type="simple">AB026264</jats:ext-link>,<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AF232228" ext-link-type="gen" xlink:type="simple">AF232228</jats:ext-link>, and<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AF232229" ext-link-type="gen" xlink:type="simple">AF232229</jats:ext-link>.]</jats:p> Comparative Genome Analysis of the Mouse Imprinted Gene<i>Impact</i>and Its Nonimprinted Human Homolog<i>IMPACT:</i>Toward the Structural Basis for Species-Specific Imprinting Genome Research |
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| title |
Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_unstemmed |
Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_full |
Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_fullStr |
Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_full_unstemmed |
Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_short |
Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_sort |
comparative genome analysis of the mouse imprinted gene<i>impact</i>and its nonimprinted human homolog<i>impact:</i>toward the structural basis for species-specific imprinting |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1101/gr.139200 |
| publishDate |
2000 |
| physical |
1878-1889 |
| description |
<jats:p>Mouse<jats:italic>Impact</jats:italic>is a paternally expressed gene encoding an evolutionarily conserved protein of unknown function. Here we identified<jats:italic>IMPACT</jats:italic>, the human homolog of<jats:italic>Impact</jats:italic>, on chromosome 18q11.2–12.1, a region syntenic to the mouse<jats:italic>Impact</jats:italic>locus.<jats:italic>IMPACT</jats:italic>was expressed biallelically in brain and in various tissues from two informative fetuses and in peripheral blood from an informative adult. To reveal the structural basis for the difference in allelic expression between the two species, we elucidated complete genome sequences for both mouse<jats:italic>Impact</jats:italic>(∼38 kb) and human<jats:italic>IMPACT</jats:italic>(∼30 kb). Sequence comparison revealed that the two genes share a well-conserved exon–intron organization but bear significantly different CpG islands. The mouse island lies in the first intron and contains characteristic tandem repeats. Furthermore, this island serves as a differentially methylated region (DMR) consisting of a hypermethylated maternal allele and an unmethylated paternal allele. Intriguingly, this intronic island is missing from the nonimprinted human<jats:italic>IMPACT</jats:italic>, whose sole CpG island spans the first exon, lacks any apparent repeats, and escapes methylation on both chromosomes. These results suggest that the intronic DMR plays a role in the imprinting of<jats:italic>Impact</jats:italic>.</jats:p><jats:p>[The sequence data described in this paper have been submitted to the DDBJ/EMBL/GenBank data library under accession nos.<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AB026264" ext-link-type="gen" xlink:type="simple">AB026264</jats:ext-link>,<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AF232228" ext-link-type="gen" xlink:type="simple">AF232228</jats:ext-link>, and<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AF232229" ext-link-type="gen" xlink:type="simple">AF232229</jats:ext-link>.]</jats:p> |
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| author | Okamura, Kohji, Hagiwara-Takeuchi, Yuriko, Li, Tao, Vu, Thanh H., Hirai, Momoki, Hattori, Masahira, Sakaki, Yoshiyuki, Hoffman, Andrew R., Ito, Takashi |
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| description | <jats:p>Mouse<jats:italic>Impact</jats:italic>is a paternally expressed gene encoding an evolutionarily conserved protein of unknown function. Here we identified<jats:italic>IMPACT</jats:italic>, the human homolog of<jats:italic>Impact</jats:italic>, on chromosome 18q11.2–12.1, a region syntenic to the mouse<jats:italic>Impact</jats:italic>locus.<jats:italic>IMPACT</jats:italic>was expressed biallelically in brain and in various tissues from two informative fetuses and in peripheral blood from an informative adult. To reveal the structural basis for the difference in allelic expression between the two species, we elucidated complete genome sequences for both mouse<jats:italic>Impact</jats:italic>(∼38 kb) and human<jats:italic>IMPACT</jats:italic>(∼30 kb). Sequence comparison revealed that the two genes share a well-conserved exon–intron organization but bear significantly different CpG islands. The mouse island lies in the first intron and contains characteristic tandem repeats. Furthermore, this island serves as a differentially methylated region (DMR) consisting of a hypermethylated maternal allele and an unmethylated paternal allele. Intriguingly, this intronic island is missing from the nonimprinted human<jats:italic>IMPACT</jats:italic>, whose sole CpG island spans the first exon, lacks any apparent repeats, and escapes methylation on both chromosomes. These results suggest that the intronic DMR plays a role in the imprinting of<jats:italic>Impact</jats:italic>.</jats:p><jats:p>[The sequence data described in this paper have been submitted to the DDBJ/EMBL/GenBank data library under accession nos.<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AB026264" ext-link-type="gen" xlink:type="simple">AB026264</jats:ext-link>,<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AF232228" ext-link-type="gen" xlink:type="simple">AF232228</jats:ext-link>, and<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AF232229" ext-link-type="gen" xlink:type="simple">AF232229</jats:ext-link>.]</jats:p> |
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| spelling | Okamura, Kohji Hagiwara-Takeuchi, Yuriko Li, Tao Vu, Thanh H. Hirai, Momoki Hattori, Masahira Sakaki, Yoshiyuki Hoffman, Andrew R. Ito, Takashi 1088-9051 1549-5469 Cold Spring Harbor Laboratory Genetics (clinical) Genetics http://dx.doi.org/10.1101/gr.139200 <jats:p>Mouse<jats:italic>Impact</jats:italic>is a paternally expressed gene encoding an evolutionarily conserved protein of unknown function. Here we identified<jats:italic>IMPACT</jats:italic>, the human homolog of<jats:italic>Impact</jats:italic>, on chromosome 18q11.2–12.1, a region syntenic to the mouse<jats:italic>Impact</jats:italic>locus.<jats:italic>IMPACT</jats:italic>was expressed biallelically in brain and in various tissues from two informative fetuses and in peripheral blood from an informative adult. To reveal the structural basis for the difference in allelic expression between the two species, we elucidated complete genome sequences for both mouse<jats:italic>Impact</jats:italic>(∼38 kb) and human<jats:italic>IMPACT</jats:italic>(∼30 kb). Sequence comparison revealed that the two genes share a well-conserved exon–intron organization but bear significantly different CpG islands. The mouse island lies in the first intron and contains characteristic tandem repeats. Furthermore, this island serves as a differentially methylated region (DMR) consisting of a hypermethylated maternal allele and an unmethylated paternal allele. Intriguingly, this intronic island is missing from the nonimprinted human<jats:italic>IMPACT</jats:italic>, whose sole CpG island spans the first exon, lacks any apparent repeats, and escapes methylation on both chromosomes. These results suggest that the intronic DMR plays a role in the imprinting of<jats:italic>Impact</jats:italic>.</jats:p><jats:p>[The sequence data described in this paper have been submitted to the DDBJ/EMBL/GenBank data library under accession nos.<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AB026264" ext-link-type="gen" xlink:type="simple">AB026264</jats:ext-link>,<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AF232228" ext-link-type="gen" xlink:type="simple">AF232228</jats:ext-link>, and<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="AF232229" ext-link-type="gen" xlink:type="simple">AF232229</jats:ext-link>.]</jats:p> Comparative Genome Analysis of the Mouse Imprinted Gene<i>Impact</i>and Its Nonimprinted Human Homolog<i>IMPACT:</i>Toward the Structural Basis for Species-Specific Imprinting Genome Research |
| spellingShingle | Okamura, Kohji, Hagiwara-Takeuchi, Yuriko, Li, Tao, Vu, Thanh H., Hirai, Momoki, Hattori, Masahira, Sakaki, Yoshiyuki, Hoffman, Andrew R., Ito, Takashi, Genome Research, Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting, Genetics (clinical), Genetics |
| title | Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_full | Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_fullStr | Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_full_unstemmed | Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_short | Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| title_sort | comparative genome analysis of the mouse imprinted gene<i>impact</i>and its nonimprinted human homolog<i>impact:</i>toward the structural basis for species-specific imprinting |
| title_unstemmed | Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1101/gr.139200 |