Transvection (genetics)

Transvection is an epigenetic phenomenon that results from an interaction between an allele on one chromosome and the corresponding allele on the homologous chromosome. Transvection can lead to either gene activation or repression.[1] It can also occur between nonallelic regions of the genome as well as regions of the genome that are not transcribed.

The first observation of mitotic (i.e. non-meiotic) chromosome pairing was discovered via microscopy in 1908 by Nettie Stevens.[2] Edward B. Lewis at Caltech discovered transvection at the bithorax complex in Drosophila in the 1950s.[3] Since then, transvection has been observed at a number of additional loci in Drosophila, including the genes known as white, decapentaplegic, eyes absent, vestigial, and yellow.[4][5] [6][7][8] As defined by Lewis, "Operationally, transvection is occurring if the phenotype of a given genotype can be altered solely by disruption of somatic (or meiotic) pairing. Such disruption can generally be accomplished by introduction of a heterozygous rearrangement that disrupts pairing in the relevant region but has no position effect of its own on the phenotype" (cited by Ting Wu and Jim Morris, 1999[9]). Recently, pairing-mediated phenomena have been observed in species other than Drosophila, including mice, humans, plants, nematodes, insects, and fungi. In light of these findings, transvection may represent a potent and widespread form of gene regulation.[10][11]

Transvection appears to be dependent upon chromosome pairing. In some cases, if one allele is placed on a different chromosome by a translocation, transvection does not occur. Transvection can sometimes be restored in a translocation homozygote, where both alleles may once again be able to pair. Restoration of phenotype has been observed at bithorax, decapentaplegic, eyes absent, and vestigial, and with transgenes of white. In some cases, transvection between two alleles leads to intragenic complementation while disruption of transvection disrupts the complementation.

Transvection is believed to occur through a variety of mechanisms. In one mechanism, the enhancers of one allele activate the promoter of a paired second allele. Other mechanisms include pairing-sensitive silencing and enhancer bypass of a chromatin insulator through pairing-mediated changes in gene structure.[12][13]

The physiological relevance of transvection has recently been documented in the context of sex-biased gene expression. In Drosophila, transvection acts on the female X-linked gene yellow, which is homozygous in females (XX) versus hemizygous in males (XY).[14]

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  6. ^ Kennison JA, Southworth JW (2002). "13 Transvection in Drosophila". Homology Effects. Advances in Genetics. Vol. 46. pp. 399–420. doi:10.1016/S0065-2660(02)46014-2. ISBN 978-0-12-017646-5. PMID 11931232.
  7. ^ Pirrotta V (July 1999). "Transvection and chromosomal trans-interaction effects". Biochim. Biophys. Acta. 1424 (1): M1–8. doi:10.1016/S0304-419X(99)00019-0. PMID 10456029.
  8. ^ McKee BD (March 2004). "Homologous pairing and chromosome dynamics in meiosis and mitosis". Biochim. Biophys. Acta. 1677 (1–3): 165–80. doi:10.1016/j.bbaexp.2003.11.017. PMID 15020057.
  9. ^ Wu CT, Morris JR (April 1999). "Transvection and other homology effects". Curr. Opin. Genet. Dev. 9 (2): 237–46. doi:10.1016/S0959-437X(99)80035-5. PMID 10322135.
  10. ^ Sandhu KS, Shi C, Sjölinder M, Zhao Z, Göndör A, Liu L, Tiwari VK, Guibert S, Emilsson L, Imreh MP, Ohlsson R (2009-11-15). "Nonallelic transvection of multiple imprinted loci is organized by the H19 imprinting control region during germline development". Genes & Development. 23 (22): 2598–603. doi:10.1101/gad.552109. PMC 2779760. PMID 19933149.
  11. ^ Rassoulzadegan M, Magliano M, Cuzin F (Feb 1, 2002). "Transvection effects involving DNA methylation during meiosis in the mouse". EMBO J. 21 (3): 440–50. doi:10.1093/emboj/21.3.440. PMC 125843. PMID 11823436.
  12. ^ Lee AM, Wu CT (Dec 2006). "Enhancer-promoter communication at the yellow gene of Drosophila melanogaster: diverse promoters participate in and regulate trans interactions". Genetics. 174 (4): 1867–80. doi:10.1534/genetics.106.064121. PMC 1698615. PMID 17057235.
  13. ^ Ou SA, Chang E, Lee S, So K, Wu CT, Morris JR (Oct 2009). "Effects of chromosomal rearrangements on transvection at the yellow gene of Drosophila melanogaster". Genetics. 183 (2): 483–96. doi:10.1534/genetics.109.106559. PMC 2766311. PMID 19667134.
  14. ^ Galouzis, Charalampos Chrysovalantis; Prud’homme, Benjamin (2021-01-22). "Transvection regulates the sex-biased expression of a fly X-linked gene". Science. 371 (6527): 396–400. Bibcode:2021Sci...371..396G. doi:10.1126/science.abc2745. ISSN 0036-8075. PMID 33479152. S2CID 231666458.