ArticleNucleic acids research2011
Novel retrotransposed imprinted locus identified at human 6p25.
Article in Nucleic acids research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- Control of ciliary transcriptional programs during spermatogenesis by antagonistic transcription factors.eLife · 2025Article
- Identifying regulators of parental imprinting by CRISPR/Cas9 screening in haploid human embryonic stem cells.Nature communications · 2021Article
- New class of transcription factors controls flagellar assembly by recruiting RNA polymerase II inProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Epigenetics: A key paradigm in reproductive health.Clinical and experimental reproductive medicine · 2016Review
- Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.Epigenetics · 2016Article
- Yeast X-chromosome-associated protein 5 (Xap5) functions with H2A.Z to suppress aberrant transcripts.EMBO reports · 2014Article
- Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouse.Genome biology and evolution · 2014Article
- Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.Journal of medical genetics · 2014Article
- Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects.PloS one · 2013Article
- Epigenetic control of alternative mRNA processing at the imprinted Herc3/Nap1l5 locus.Nucleic acids research · 2012Article
- The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility.ILAR journal · 2012Review
- A Prevalence of Imprinted Genes within the Total Transcriptomes of Human Tissues and Cells.Molecular biology international · 2012Article
- Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies.Epigenetics & chromatin · 2011Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
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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