Autosomal and X-chromosome imprinting
Open Access
- 1 April 1990
- journal article
- review article
- Published by The Company of Biologists in Development
- Vol. 108 (Supplement), 63-72
- https://doi.org/10.1242/dev.108.supplement.63
Abstract
Mouse genetic studies using Robertsonian and reciprocal translocations have shown that certain autosomal regions of loci are subject to a parental germ line imprint, which renders maternal and paternal copies functionally inequivalent in the embryo or later stages of development. Duplication of maternal or paternal copies with corresponding paternal/maternal deficiencies in chromosomally balanced zygotes causes various effects. These range from early embryonic lethalities through to mid-fetal and neonatal lethalities, and in some instances viable young with phenotypic effects are obtained. Eight to nine chromosomal regions that give such imprinting effects have been identified. Six to seven of these regions are located in only three chromosomes (2, 7 and 17). The two other regions are located in chromosomes 6 and 11. Maternal and paternal disomies for each of four other chromosomes (1, 5, 9 and 14) have been recovered with different frequencies, but the possibility that this may be due to imprinting has yet to be supported by follow-up studies on regions of the chromosomes concerned. No clear evidence of genetic-background modifications of the imprinting process have been observed in these mouse genetic experiments. The mammalian X chromosome is also subject to imprinting, as demonstrated by the non-random, paternal X-inactivation in female mouse extra-embryonic tissues and in the somatic cells of marsupial females. There is also the opposite bias towards inactivation of the maternal X in the somatic cells of female mice. On the basis that both X-chromosome inactivation and autosomal chromosome imprinting may be concerned with gene regulation, it is suggested that evidence from X-chromosome inactivation studies may help to elucidate factors underlying the imprinting of autosomes. The relevant aspects of X-inactivation are summarized.Keywords
This publication has 44 references indexed in Scilit:
- Controlling elements in the mouse: IV. Evidence of non-randomX-inactivationGenetics Research, 1981
- Paternal X chromosome expression in extraembryonic membranes of XO miceJournal of Experimental Zoology, 1979
- X chromosome inactivation in diploid parthenogenetic mouse embryosNature, 1978
- Factors affecting the observed number of young resulting from adjacent-2 disjunction in mice carrying a translocationGenetics Research, 1977
- CONTROL OF CHROMOSOME INACTIVATIONAnnual Review of Genetics, 1975
- Further observations on the hairpin-tail (Thp) mutation in the mouseGenetics Research, 1974
- Position effect variegation in the mouseGenetics Research, 1974
- Meiotic disjunction in mouse translocations and the determination of centromere positionGenetics Research, 1971
- CHROMOSOMAL AND SUBCHROMOSOMAL INACTIVATIONAnnual Review of Genetics, 1968
- Heterochromatic Chromosomes in the CoccidsScience, 1964