Maternal environment and the expression of murine neural tube defects

Seller, Mary J.; Beck, Susan E.; Adinolfí, Matteo; Polani, P. E.

doi:10.1002/pd.1970010204

Cited by 7 publications

(3 citation statements)

References 8 publications

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“…CT × CT). However, transfer of curly tail embryos at the blastocyst stage to non-mutant uterine recipients did not lead to a decrease in penetrance of NTD 43 , arguing against a significant effect of maternal uterine environment. Moreover, in work performed since 1980, the dependence of penetrance on parental phenotype could not be repeated 18; 33 , with the exception of studies in which curly tail dams were treated with retinoic acid 7; 8; 48 , or with L-methionine 53 , where a parental phenotype-specific difference in penetrance was still observed.…”

Section: Origin Of the Curly Tail Mousementioning

confidence: 87%

Curly tail: a 50-year history of the mouse spina bifida model

Straaten¹,

Copp²

2001

Anatomy and Embryology

109

118

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SummaryThis paper reviews 50 years of progress towards understanding the aetiology and pathogenesis of neural tube defects (NTD) in the curly tail (ct) mutant mouse. More than 45 papers have been published on various aspects of curly tail with the result that it is now the best understood mouse model of NTD pathogenesis. The failure of closure of the spinal neural tube, which leads to spina bifida in this mouse, has been traced back to a tissue-specific defect of cell proliferation in the tail bud of the E9.5 embryo. This cell proliferation defect results in a growth imbalance in the caudal region that generates ventral curvature of the body axis. Neurulation movements are opposed, leading to delayed neuropore closure and spina bifida, or tail defects. It is interesting to reflect that these advances have been achieved in the absence of information on the nature of the ct gene product, which remains unidentified. In addition to the principal ct gene, which maps to distal Chromosome 4, the curly tail phenotype is influenced by several modifier genes and by environmental factors. NTD in curly tail are resistant to folic acid, but can be prevented by myoinositol. These and other features of NTD in this system bear striking similarities to the situation in humans, making curly tail a model for understanding a sub-type of human NTD.

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Section: Origin Of the Curly Tail Mousementioning

confidence: 87%

Curly tail: a 50-year history of the mouse spina bifida model

Straaten¹,

Copp²

2001

Anatomy and Embryology

109

118

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“…As leader, from 1960, of a large research unit containing other senior staff, there were inevitably areas of work where Polani was not directly involved, but which were nevertheless of special interest to him. The development of prenatal diagnosis was one of these, while another was research into the basis and prevention of neural tube defects, where work in his unit included experimental studies of the ‘curly-tail’ mouse model (Embury et al 1979; Seller et al 1979), prenatal diagnosis, and prevention by preconceptional vitamins (Seller et al 1981; Wald and Polani 1984). His most important role in these areas was perhaps to help bridge the work of the specific groups involved.…”

Section: Later Researchmentioning

confidence: 99%

Paul Polani and the development of medical genetics

Harper

2006

Hum Genet

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Paul Polani (1914Polani ( -2006 was one of the key figures internationally in the beginnings and development of medical genetics. Best remembered scientifically for his highly original work on the basis of human sex chromosome disorders, notably Turner syndrome, he pioneered the application of basic biological research to clinical genetic problems. The unit that he founded in 1960, at Guys Hospital, London, provided an unparalleled model for combined research and service in medical genetics across a wide range of laboratory areas and helped to establish medical genetics as a specific discipline.

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“…The impact of a risk factor varies with the type of NTD and the presence or absence of other defects. Several studies have investigated the role that genetic and environmental factors play in triggering NTD cases [ 3 ]. One of these factors is life-style.…”

Section: Introductionmentioning

confidence: 99%

Assessing local determinants of neural tube defects in the Heshun Region, Shanxi Province, China

et al. 2010

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BackgroundNeural tube defect (NTD) prevalence in northern China is among the highest worldwide. Dealing with the NTD situation is ranked as the number one task in China's scientific development plan in population and health field for the next decade. Physical and social environments account for much of the disease's occurrence. The environmental determinants and their effects on NTD vary across geographical regions, whereas factors that play a significant role in NTD occurrence may be buried by global statistics analysis to a pooled dataset over the entire study area. This study aims at identification of the local determinants of NTD across the study area and exploration of the epidemiological implications of the findings.MethodsNTD prevalence rate is represented in terms of the random field theory, and Rushton's circle method is used to stabilize NTD rate estimation across the geographical area of interest; NTD determinants are represented by their measurable proxy variables and the geographical weighted regression (GWR) technique is used to represent the spatial heterogeneity of the NTD determinants.ResultsInformative maps of the NTD rates and the statistically significant proxy variables are generated and rigorously assessed in quantitative terms.ConclusionsThe NTD determinants in the study area are investigated and interpreted on the basis of the maps of the proxy variables and the relationships between the proxy variables and the NTD determinants. No single determinant was found to dominate the NTD occurrence in the study area. Villages where NTD rates are significantly linked to environmental determinants are identified (some places are more closely linked to certain environmental factors than others). The results improve current understanding of NTD spread in China and provide valuable information for adequate disease intervention planning.

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Maternal environment and the expression of murine neural tube defects

Cited by 7 publications

References 8 publications

Curly tail: a 50-year history of the mouse spina bifida model

Curly tail: a 50-year history of the mouse spina bifida model

Paul Polani and the development of medical genetics

Assessing local determinants of neural tube defects in the Heshun Region, Shanxi Province, China

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