O-27: Genome Instabilities in Preimplantation Development Leading to Genetic Variation between Tissues of Normal Human Fetuses
نویسندگان
چکیده مقاله:
Background: Origin of midlife copy number variations (CNVs) between tissues in non-genetic diseases is unknown. Such genomic differences caused by post-zygotic events. They might either happen during the life or due to prevalent mosaicism in preimplantation stage. We aim to explore fetal mosaicism and its origins. Materials and Methods: Two apparently normal fetuses were achieved following the therapeutic abortion due to maternal indications on fourth month of pregnancy. DNAs from 22 tissues of each fetus were studied by array CGH using slides contain 195000 probe. Copy number calling was performed using Circular Binary Segmentation (CBS) method. Reciprocal CNVs as high confidence CNVs was validated by qPCR. Functional analysis was performed by gene ontology (GO). Results: About 60 CNVs was observed in each fetus. The frequency of reciprocal CNVs varied from 2 to 18. Analysis of the CNVs by array CGH and qPCR showed that quantity of their change were not mostly integer multiples. Some of CNVs were shared between both fetuses, some were found in the same tissues, whereas some in different tissues. GO showed that altered genes are mostly involved in embryonic development pathways. Tissues clustering according to CNVs revealed that those from the same embryonic origin in some cases are close together in a cluster; however, there were large disagreements with clustering of embryonic layers derivatives. Conclusion: According to distribution pattern of frequent CNVs, their origin should be early development, some preimplantation and some postimplantatation. CNVs with low frequency seem to occur in later stages. Each organ inherits CNVs with a unique pattern regarding to extensive cell mixing/migration in embryonic development. Shared variations seem to be hotspots for CNV events, those occur in the same tissues might be functional. Regarding preimplantation origin of some CNVs, PGD methods with ability of mosaicism and CNVs detection could be helpful to transfer the healthier embryos.
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عنوان ژورنال
دوره 8 شماره 2.5
صفحات 26- 26
تاریخ انتشار 2014-07-01
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