Essential Roles of BCCIP in Mouse Embryonic Development and Structural Stability of Chromosomes

Lu, Huimei; Huang, Yiyuan; Mehrotra, Sonam; Droz-Rosario, Roberto; Liu, Jingmei; Bhaumik, Mantu; White, Eileen; Shen, Zhiyuan

doi:10.1371/journal.pgen.1002291

Cited by 23 publications

(61 citation statements)

References 46 publications

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“…Knockdown of BCCIP also results in $2-fold increases in immunostaining for ssDNA foci and gH2AX DSB foci [1186], effects that are apparently caused by defective repair of broken replication forks [1187]. A mouse bccip knockout model confirms the contribution of BCCIP to DSB repair and chromosome stability in irradiated cells [1188].…”

Section: Bccipmentioning

confidence: 73%

Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: The molecular choreography

Thompson

2012

Mutation Research/Reviews in Mutation Research

323

283

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Section: Bccipmentioning

confidence: 73%

Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: The molecular choreography

Thompson

2012

Mutation Research/Reviews in Mutation Research

323

283

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“…In contrast to these three genes, few of the other genes that we found to be significantly associated with both Cd and birth weight have previously been related to developmental growth. BCCIP is important for structural stability of chromosomes and conditional BCCIP knock-down transgenic mice show growth retardation and impaired embryonic cell proliferation 30 , 31 . Thus, one could speculate that in humans increased methylation of BCCIP results in reduced growth of the developing child.…”

Section: Discussionmentioning

confidence: 99%

Sex-specific effects of early life cadmium exposure on DNA methylation and implications for birth weight

et al. 2013

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Dietary cadmium exposure was recently found to alter DNA methylation in adults, but data on effects early in life are lacking. Our objective was to evaluate associations between prenatal cadmium exposure, DNA methylation and birth weight. In total 127 mother-child pairs from rural Bangladesh were studied. For comparison, we included 56 children at 4.5 y. Cadmium concentrations in mothers’ blood (gestational week 14) and children’s urine were measured by ICPMS. Global DNA methylation was analyzed by Infinium HumanMethylation450K BeadChip in cord blood and children’s blood. Maternal cadmium exposure was associated with cord blood DNA methylation (p-value < 10–16). The association was markedly sex-specific. In boys, 96% of the top 500 CpG sites showed positive correlations (rS-values > 0.50), whereas most associations in girls were inverse; only 29% were positive (rS > 0.45). In girls we found overrepresentation of methylation changes in genes associated with organ development, morphology and mineralization of bone, whereas changes in boys were found in cell death-related genes. Several individual CpG sites that were positively associated with cadmium were inversely correlated with birth weight, although none statistically significant after correction for multiple comparisons. The associations were, however, fairly robust in multivariable-adjusted linear regression models. We identified CpG sites that were significantly associated with cadmium exposure in both newborns and 4.5-y-old children. In conclusion, cadmium exposure in early life appears to alter DNA methylation differently in girls and boys. This is consistent with previous findings of sex-specific cadmium toxicity. Cadmium-related changes in methylation were also related to lower birth weight.

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“…The cell lysate were prepared as described before [33], [34]. The samples were subjected to SDS-PAGE.…”

Section: Methodsmentioning

confidence: 99%

Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome

Yue¹,

Lu²,

Lan³

et al. 2013

PLoS ONE

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Dubowitz Syndrome is an autosomal recessive disorder with a unique set of clinical features including microcephaly and susceptibility to tumor formation. Although more than 140 cases of Dubowitz syndrome have been reported since 1965, the genetic defects of this disease has not been identified. In this study, we systematically analyzed the DNA damage response and repair capability of fibroblasts established from a Dubowitz Syndrome patient. Dubowitz syndrome fibroblasts are hypersensitive to ionizing radiation, bleomycin, and doxorubicin. However, they have relatively normal sensitivities to mitomycin-C, cisplatin, and camptothecin. Dubowitz syndrome fibroblasts also have normal DNA damage signaling and cell cycle checkpoint activations after DNA damage. These data implicate a defect in repair of DNA double strand break (DSB) likely due to defective non-homologous end joining (NHEJ). We further sequenced several genes involved in NHEJ, and identified a pair of novel compound mutations in the DNA Ligase IV gene. Furthermore, expression of wild type DNA ligase IV completely complement the DNA repair defects in Dubowitz syndrome fibroblasts, suggesting that the DNA ligase IV mutation is solely responsible for the DNA repair defects. These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations.

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Essential Roles of BCCIP in Mouse Embryonic Development and Structural Stability of Chromosomes

Cited by 23 publications

References 46 publications

Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: The molecular choreography

Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: The molecular choreography

Sex-specific effects of early life cadmium exposure on DNA methylation and implications for birth weight

Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome

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