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Hsueh lab

HPMR

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since 01/2001:
176557

family with sequence similarity 50, member B OKDB#: 4454
 Symbols: FAM50B Species: human
 Synonyms: X5L, D6S2654E,  Locus: 6p25.2 in Homo sapiens


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General Comment
General function
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Cellular localization
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Ovarian function
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Expression regulated by
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Ovarian localization Oocyte
Comment Novel retrotransposed imprinted locus identified at human 6p25. Zhang A et al. 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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created: March 23, 2011, 8:52 a.m. by: hsueh   email:
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last update: March 23, 2011, 8:52 a.m. by: hsueh    email:



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