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Novel retrotransposed imprinted locus identified at human 6p25

Differentially methylated regions (DMRs) are stable epigenetic features within or in proximity to imprinted genes. We used this feature to identify candidate human imprinted loci by quantitative DNA methylation analysis. We discovered a unique DMR at the 5′-end of FAM50B at 6p25.2. We determined tha...

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Autores principales: Zhang, Aiping, Skaar, David A., Li, Yue, Huang, Dale, Price, Thomas M., Murphy, Susan K., Jirtle, Randy L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141237/
https://www.ncbi.nlm.nih.gov/pubmed/21421564
http://dx.doi.org/10.1093/nar/gkr108
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author Zhang, Aiping
Skaar, David A.
Li, Yue
Huang, Dale
Price, Thomas M.
Murphy, Susan K.
Jirtle, Randy L.
author_facet Zhang, Aiping
Skaar, David A.
Li, Yue
Huang, Dale
Price, Thomas M.
Murphy, Susan K.
Jirtle, Randy L.
author_sort Zhang, Aiping
collection PubMed
description Differentially methylated regions (DMRs) are stable epigenetic features within or in proximity to imprinted genes. We used this feature to identify candidate human imprinted loci by quantitative DNA methylation analysis. We discovered a unique DMR at the 5′-end of FAM50B at 6p25.2. We determined that sense transcripts originating from the FAM50B locus are expressed from the paternal allele in all human tissues investigated except for ovary, in which expression is biallelic. Furthermore, an antisense transcript, FAM50B-AS, was identified to be monoallelically expressed from the paternal allele in a variety of tissues. Comparative phylogenetic analysis showed that FAM50B orthologs are absent in chicken and platypus, but are present and biallelically expressed in opossum and mouse. These findings indicate that FAM50B originated in Therians after divergence from Prototherians via retrotransposition of a gene on the X chromosome. Moreover, our data are consistent with acquisition of imprinting during Eutherian evolution after divergence of Glires from the Euarchonta mammals. FAM50B expression is deregulated in testicular germ cell tumors, and loss of imprinting occurs frequently in testicular seminomas, suggesting an important role for FAM50B in spermatogenesis and tumorigenesis. These results also underscore the importance of accounting for parental origin in understanding the mechanism of 6p25-related diseases.
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spelling pubmed-31412372011-07-22 Novel retrotransposed imprinted locus identified at human 6p25 Zhang, Aiping Skaar, David A. Li, Yue Huang, Dale Price, Thomas M. Murphy, Susan K. Jirtle, Randy L. Nucleic Acids Res Gene Regulation, Chromatin and Epigenetics Differentially methylated regions (DMRs) are stable epigenetic features within or in proximity to imprinted genes. We used this feature to identify candidate human imprinted loci by quantitative DNA methylation analysis. We discovered a unique DMR at the 5′-end of FAM50B at 6p25.2. We determined that sense transcripts originating from the FAM50B locus are expressed from the paternal allele in all human tissues investigated except for ovary, in which expression is biallelic. Furthermore, an antisense transcript, FAM50B-AS, was identified to be monoallelically expressed from the paternal allele in a variety of tissues. Comparative phylogenetic analysis showed that FAM50B orthologs are absent in chicken and platypus, but are present and biallelically expressed in opossum and mouse. These findings indicate that FAM50B originated in Therians after divergence from Prototherians via retrotransposition of a gene on the X chromosome. Moreover, our data are consistent with acquisition of imprinting during Eutherian evolution after divergence of Glires from the Euarchonta mammals. FAM50B expression is deregulated in testicular germ cell tumors, and loss of imprinting occurs frequently in testicular seminomas, suggesting an important role for FAM50B in spermatogenesis and tumorigenesis. These results also underscore the importance of accounting for parental origin in understanding the mechanism of 6p25-related diseases. Oxford University Press 2011-07 2011-03-18 /pmc/articles/PMC3141237/ /pubmed/21421564 http://dx.doi.org/10.1093/nar/gkr108 Text en © The Author(s) 2011. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/2.5 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Gene Regulation, Chromatin and Epigenetics
Zhang, Aiping
Skaar, David A.
Li, Yue
Huang, Dale
Price, Thomas M.
Murphy, Susan K.
Jirtle, Randy L.
Novel retrotransposed imprinted locus identified at human 6p25
title Novel retrotransposed imprinted locus identified at human 6p25
title_full Novel retrotransposed imprinted locus identified at human 6p25
title_fullStr Novel retrotransposed imprinted locus identified at human 6p25
title_full_unstemmed Novel retrotransposed imprinted locus identified at human 6p25
title_short Novel retrotransposed imprinted locus identified at human 6p25
title_sort novel retrotransposed imprinted locus identified at human 6p25
topic Gene Regulation, Chromatin and Epigenetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141237/
https://www.ncbi.nlm.nih.gov/pubmed/21421564
http://dx.doi.org/10.1093/nar/gkr108
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