Role of genomic imprinting in mammalian development
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Ó Indian Academy of Sciences (0123456789().,-volV) (0123456789().,-volV)
Review Role of genomic imprinting in mammalian development THUSHARA THAMBAN1,2, VIPLOVE AGARWAAL1,2 and SANJEEV KHOSLA1* 1
Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India 2
Graduate Studies, Manipal Academy of Higher Education, Manipal, India *Corresponding author (Email, [email protected])
Non-mendelian inheritance refers to the group of phenomena and observations related to the inheritance of genetic information that cannot be merely explained by Mendel’s laws of inheritance. Phenomenon including Genomic imprinting, X-chromosome Inactivation, Paramutations are some of the best studied examples of non-mendelian inheritance. Genomic imprinting is a process that reversibly marks one of the two homologous loci, chromosome or chromosomal sets during development, resulting in functional non-equivalence of gene expression. Genomic imprinting is known to occur in a few insect species, plants, and placental mammals. Over the years, studies on imprinted genes have contributed immensely to highlighting the role of epigenetic modifications and the epigenetic circuitry during gene expression and development. In this review, we discuss the phenomenon of genomic imprinting in mammals and the role it plays especially during fetoplacental growth and early development. Keywords. Genomic imprinting; imprinted genes; epigenetic modifications; DNA methylation; histone modifications; placenta Abbreviations: SNP, single nucleotide polymorphism; ncRNA, non-coding RNA; ICR, imprint control region; DMR, differentially methylated region; gDMR, germline DMR; dpc, days post coitum; lncRNA, long non-coding RNA; eRNA, enhancer RNA; sDMR, somatic DMR; IG-DMR, intergenic DMR; ART, assisted reproductive techniques; ICSI, intracytoplasmic sperm injection; IVF, in vitro fertilization; IGN, imprinted gene network; PGC, primordial germ cells; TGC, trophoblast giant cells; BPA, bisphenol A
Genomic imprinting is a process that reversibly marks one of the two homologous loci, chromosome or chromosomal sets during development, resulting in functional non-equivalence of gene expression. The monoallelic expression of an imprinted gene is parentof-origin dependent. The phenomenon was recognized in mammals due the pioneering work in 1980s on mouse embryonic development and human genetic disorders. Over the years, studies on imprinted genes have contributed immensely to highlighting the role of epigenetic modifications and the epigenetic circuitry during gene expression and development.
This artice is part of the Topical Collection: Chromatin Biology and Epigenetics. http://www.ias.ac.in/jbiosci
1. Discovery of imprinted genes Both parents, male and female contribute equal genetic material to an offspring in a diploid organism. But it was soon observed that parthenogenesis, the ability to produce offspring from unfertilized eggs, wide-spread in invertebrates was not observed in vertebrates especially mammals. In 1970s several attempts were made to generate mamm
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