Comparison of gene expression of the oncogenic Wnt/β-catenin signaling pathway components in the mouse and human epididymis

β-catenin is an integral part of the Wnt signaling pathway and has been linked to tumorigenesis and multiple developmental processes. The high β-catenin expression with low tumor incidence in the human epididymis is thus intriguing. In the present study, the β-catenin gene and protein was found to be highly expressed in the murine caput epididymidis, and the protein mainly localized along the lateral plasma membranes of adjacent epithelial cells throughout both human and mouse epididymides. Furthermore, the adult mouse epididymis was found to express almost all the Wnt/β-catenin signaling pathway genes that were determined previously by our group in the human organ. Despite the differences in epididymal structure, the similar location of β-catenin and the high concordance of this pathway＇s components＇ gene expression in both the adult human and mouse epididymides make the mouse a suitable animal model for studying the anti-tumor mechanism of the epididymis. In addition, both the mRNA and protein expression of β-catenin shared a similar spatial expression as the mRNA of Rosl, a proto-oncogene and a key developmental regulator of the initial segment of the mouse epididymis. The observations on the parallel temporal expression of β-catenin and Rosl during postnatal development raise the possibility that the canonical Writ signaling pathway has an additional role in the postnatal development of mouse epididymis.

Seizures as the first manifestation of chromosome 2q24.2-q24.3 in a two and a half years old girl: A case report

Background:Mutations and/or duplications in the chromosome 2q24.3 region are known to be responsible for various epilepsy phenotypes.However,microdeletion in childhood epilepsy is rarely reported.Case presentation:A two-and-a-half-year-old girl with no history of hypocalcemia or seizures developed new symptoms of generalized tonic-clonic epilepsy.The clinical manifestations were growth retardation,prominent forehead,closed anterior fontanelle,and poor muscle tension.Peripheral blood,echocardiography,abdominal ultrasound,and electroencephalogram(EEG)examinations were all normal.No karyotype abnormality was found in the patient,but a single nucleotide polymorphism(SNP)array test detected that a 3.5 Mb single-copy microdeletion had occurred in the q24.2-q24.3 region on chromosome 2.Fluorescence in situ hybridization(FISH)tests revealed that the 2q24 fragment was inserted into the q11.2 region of the patient's chromosome 15,as well as that of her sister.In both cases,the patient's mother is the source carrier of the chromosome 15 insertion.Conclusions:The deletion of the sodium channel gene cluster(SCN1A,SCN2A,and SCN3A),but not SCN1A haploinsufficiency alone,may contribute to complex infant epilepsy syndromes.However,the pathogenic mechanism still needs to be studied further.