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Shaomei Liu,Jiaxin Li,Yuan Wu,Yanna Ren,Qi Liu,Qiyao Wang,Xiangshan Zhou,Menghao Cai,Yuanxing Zhang 한국유전학회 2017 Genes & Genomics Vol.39 No.3
Aspergillus glaucus HB1-19 is a typical marinederived fungus preferring the dependence on sea water for its growth, asexual development and polyketides biosynthesis. Therein, salt stress greatly functions even in superior to light illumination, which is also a critical regulation signal for fungi. Here, comparative RNA-seq analysis of this strain was performed under conditions of saltstress ? dark (group A), non salt-stress ? dark (group B), salt-stress ? light (group C). The RNA-seq generated a total of 19,024 unigenes with an average length of 1415 bp. Differentially expressed genes were very similar between group A and group C but greatly differed between group A and group B, proving that salt stress functioned superior to light illumination globally. Salt stress highly enhanced primary metabolism and activated Ras and MAPK signaling pathways. There seems no direct interaction between asexual development and polyketides biosynthesis. Salt stress inhibited terpenoids biosynthesis but showed little influences on polyketide pathway as well as other secondary metabolism pathways. These findings provide a better understanding of marine fungi adapting to marine environment. Also, it indicates that the so-called ‘salt stress-induced’ may truly be a ‘metal ions-induced’ for biosynthesis of secondary metabolites in marine fungi.
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Wen Zhang,Ruizhu Lin,Zhikun Lu,Huiying Sheng,Yi Xu,Xiuzhen Li,Jing Cheng,Yanna Cai,Xiaojian Mao,Li Liu 대한소아소화기영양학회 2020 Pediatric gastroenterology, hepatology & nutrition Vol.23 No.6
Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion: The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.
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