The aim of this master thesis was to examine a possible connection between chromatin functions and the DNA damage repair system, with the imprinted IGF2/H19 locus as a bait. Interactions can occur within and between chromosomes and it has been shown that H19 ICR on both alleles can communicate with alleles on other chromosomes. The methylation-sensitive insulator protein CTCF is bound on the maternal H19 ICR and acts as an insulator by blocking the IGF2 promoter to access its enhancers. This is possible by formation of loop structures by CTCF that enables intra and inter-chromosomal interactions. CTCF is poly(ADP-ribosyl)ated by PARP-1 when it is bound to H19 ICR.

IGF2 (insulin-lik tillväxtfaktor 2) och H19 är präglade gener hos däggdjur. Präglade gener uttrycks ojämnt; den allel som ärvts från den ena föräldern uttrycks mer än den från den andra. IGF2-genen kodar för en viktig embryonal tillväxtfaktor och uttrycks till protein bara från den paternella allelen. H19 transkriberas bara från den maternella allelen, men translateras inte till protein. IGF2 spelar en viktig roll under dräktigheten, då den bidrar till tillväxten av både placenta och foster och reglerar såväl näringstillgång och tillväxthastighet för embryot. Enligt en teori kallad ?the genetic conflict theory? (~konflikten mellan genomen) så ligger det i honans intresse att fördela resurserna jämnt mellan alla syskon.

ABSTRACTThe aim of this study was to give an overview of the evidence for genomic imprinting in livestock and other mammals as well as outline the potential use of gene imprinting in livestock breeding. Epigenetics is the mitotical and meiotical partial hereditary variation in genomic activity without any alterations of the DNA sequence. An example of epigenetic regulation is genomic imprinting where one allele?s expression differs depending on which parent it was inherited from. These parent-of-origin effects are currently overlooked in livestock production.