Expression and significance of Shh and Wnt5a genes in Cornelia de Lange syndrome

XING Peng-Rui; PAN Jin-Yong; ZHANG Hui-Rong

doi:10.7499/j.issn.1008-8830.2019.05.017

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Chinese Journal of Contemporary Pediatrics ›› 2019, Vol. 21 ›› Issue (5) : 485-490. DOI: 10.7499/j.issn.1008-8830.2019.05.017

EXPERIMENTAL RESEARCH

Expression and significance of Shh and Wnt5a genes in Cornelia de Lange syndrome

XING Peng-Rui, PAN Jin-Yong, ZHANG Hui-Rong

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Abstract

Objective To study the expression of Shh and Wnt5a genes in the limb buds of NIPBL^+/- fetal rats and the association of these two genes with Cornelia de Lange syndrome (CdLS). Methods A total of 72 NIPBL^+/- fetal rats were divided into an experimental group and a control group, with 36 rats in each group. The limb buds were collected from 12 fetal rats each on embryonic days 10, 11 and 12 (E10, E11 and E12) respectively. Real-time PCR and Western blot were used to measure the mRNA and protein expression of Shh and Wnt5a. Results The mRNA and protein expression of Shh and Wnt5a was detected in the limb buds on E10, E11 and E12, and the experimental group had significantly lower expression than the control group (P < 0.01). The mRNA and protein expression of Shh and Wnt5a in limb buds was at a low level on E10, followed by an increase on E11 and a reduction on E12, and the expression on E12 was still lower than that on E10 (P < 0.01). Conclusions The mRNA and protein expression of Shh and Wnt5a are consistent. The pathogenesis of CdLS may be associated with the low mRNA and protein expression of Shh and Wnt5a inhibited by the low expression of NIPBL gene.

Key words

Cornelia de Lange syndrome / NIPBL / Shh / Wnt5a / Fetal rats

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XING Peng-Rui, PAN Jin-Yong, ZHANG Hui-Rong. Expression and significance of Shh and Wnt5a genes in Cornelia de Lange syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2019, 21(5): 485-490 https://doi.org/10.7499/j.issn.1008-8830.2019.05.017

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