jumonji gene is essential for the neurulation and cardiac development of mouse embryos with a C3H/He background

Abstract

The recessive mutant mouse jumonji (jmj), obtained by a gene trap strategy, shows neural tube defects in approximately half of homozygous embryos with a BALB/cA and 129/Ola mixed background, but no neural tube defects with BALB/cA, C57BL/6J, and DBA/2J backgrounds. Here, we show that neural tube and cardiac defects are observed in all embryos with a C3H/HeJ background. In addition, abnormal groove formation and prominent flexure are observed on the neural plate with full penetrance, suggesting that abnormal groove formation leads to neural tube defects. We found morphogenetic abnormalities in the bulbus cordis (future outflow tract and the right ventricle) of homozygous embryo hearts. Moreover, myocytes in the ventricular trabeculae show hyperplasia with cells filling the ventricles. Together with the observation that the jmj gene is expressed in the neural epithelium of the head neural plate and in myocytes in the bulbus cordis and trabeculae, the results show that the jmj gene plays essential roles in the normal development of the neural plate, morphogenesis of bulbus cordis, and proliferation of trabecular myocytes on a C3H/He background.

Roles of jumonji and jumonji family genes in chromatin regulation and development

“…On the other hand, jmj was disrupted in a limited number of tissues, such as the heart, in another jmj mutant strain (Lee et al, 2000). Although the mutant mice used by Lee's group showed abnormalities in only the heart (Lee et al, 2000) probably because of this limitation, our jmj mutant mice show developmental abnormalities in various tissues and die in utero (Takeuchi et al, 1995;Motoyama et al, 1997;Kitajima et al, 1999Kitajima et al, , 2001Takeuchi et al, 1999;Anzai et al, 2003). jmj phenotypes are influenced by mouse genetic backgrounds.…”

Application of Divergence Entropy to Characterize the Structure of the Hydrophobic Core in DNA Interacting Proteins

“…As already mentioned above, from among the proteins selected for analysis, three-2JXJ, 2EQY and 3GL6-also appear in the DisProt database [23]). This database specifically lists "protein sequences that do not assume a defined structural motif such as a β-pleated sheet or an α-helix in isolation, but may assume many conformations in association with other proteins or factors" (citation from Reference 48).…”

“…Domains selected for analysis include fragments responsible for DNA interactions; specifically, the β-hairpin which, in the case of PHD domains, is characterized by the stabilizing presence of zinc (Zn 2+ ) ions. Our selection is motivated by the fact that these domains participate in epigenetic phenomena (histone demethylase activity) [18] as well as in polycomb complexation [19][20][21], both of which are important in the context of pathological (disease-related) processes [22,23].…”

Resetting the epigenome for heart regeneration.

“…Homozygous knockout of Jumonji (Jmj), which demethylates H3K9me2 or H3K27me2, is embryonic lethal around E11.5 with growth retardation and cardiac defects, including hyperplasia of trabecular cardiomyocytes [88]. The repressive effects of Jmj on cardiomyocyte proliferation involve direct repression of cyclin D1 [89] and potentiatiation of the repressive effects of retinoblastoma function on E2F activity and cell cycle genes [90].…”