Nonsense mutation of EMX2 is potential causative for uterus didelphysis: first molecular explanation for isolated incomplete müllerian fusion  

Oleh:

Liu, Shan ; Xuan Gao ; Yingying Qin ; Liu, Wen

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 103 no. 03 (Mar. 2015), page 769-774.
Topik: Dominant negative effect; EMX2; incomplete müllerian fusion; müllerian duct anomalies; P63

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K Non-tandon: tidak ada Tandon: 1

Lihat Detail Induk

Isi artikel

Objective To investigate the association between human empty spiracles homeobox 2 gene (EMX2) and incomplete müllerian fusion (IMF). Design Case-control study. Setting University-based hospital. Patient(s) Cohort of 517 clinically well-characterized IMF cases and 563 control women. Intervention(s) None. Main Outcome Measure(s) In cases and control women, direct sequencing of EMX2 exons and further functional studies; for functional studies, wild-type and mutant EMX2 expression plasmids constructed; human embryonic kidney cells (HEK293FT) transfected with empty vector, wild-type EMX2, mutant EMX2, and 1:1 combination (wild-type/mutant plasmids) with additional functional studies performed to clarify the deleterious effect of the novel mutation detected. Result(s) A novel nonsense mutation p.E142X was detected in one woman with a didelphic uterus (1 of 517, 0.19%). The results of Western blot analysis confirmed that the mutation caused a truncated protein as predicted, and functional studies proved that it resulted in a dominant negative effect. Conclusion(s) The novel nonsense mutation we detected-EMX2, p.E142X- resulted in a dominant negative effect. The functional data were exemplified in HEK293FT cells. This reinforced the likelihood that EMX2 contributed to the pathophysiology of IMF. Although it is uncommon (0.19%), EMX2 is the first gene identified that if perturbed may cause isolated IMF.

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