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Expression and function analysis of a rice OsHSP40 gene under salt stress
Xin Wang,Huan Zhang,Lu‑Yuan Shao,Xin Yan,Hui Peng,Jie‑Xiu Ouyang,Shao‑Bo Li 한국유전학회 2019 Genes & Genomics Vol.41 No.2
Heat shock proteins (HSPs) play essential roles in both plant growth and abiotic stress tolerance. In rice, OsHSP40 was recently reported to regulate programmed cell death (PCD) of suspension cells under high temperature. However, the expression and functions of OsHSP40 under normal growth or other abiotic stress conditions is still unknown. We reported the expression and function of a rice OsHSP40 gene under salt stress. Homologous proteins of OsHSP40 were collected from the NCBI database and constructed the neighbor-joining (NJ) phylogenetic tree. The expression pattern of OsHSP40 was detected by qRT-PCR under NaCl (150 mM) treatment. Then, identified a rice T-DNA insertion mutant oshsp40. At last, we compared and analyzed the phenotypes of oshsp40 and wild type under salt stress. OsHSP40 was a constitutively expressed small HSP (sHSP) gene and was close related to other plant sHSPs. Moreover, the expression of OsHSP40 was regulated by salt, varying across time points and tissues. Furthermore, the growth of T-DNA insertion mutant of OsHSP40 (designated as oshsp40) was suppressed by NaCl (150 mM) compared with that of the WT at seedling stage. Detailed measurement showed root and shoot length of the oshsp40 seedlings were significantly shorter than those of the WT seedlings under NaCl stress. In addition, the pot experiment results revealed that seedlings of oshsp40 withered more seriously compared with those of WT after NaCl treatment and recovery, and that survival rate and fresh weight of oshsp40 seedlings were significantly reduced. Taken together, these data suggested that OsHSP40 had multiple functions in rice normal growth and abiotic stress tolerance.
Mutations of ARX and non-syndromic intellectual disability in Chinese population
Yufei Wu,Huan Zhang,Xiaofen Liu,Zhangyan Shi,Hongling Li,Zhibin Wang,Xiaoyong Jie,Shao-Ping Huang,Fu-Chang Zhang,Junlin Li,Ke-Jin Zhang,Xiao-Cai Gao 한국유전학회 2019 Genes & Genomics Vol.41 No.1
Mutations of Aristaless-related homeobox (ARX) gene were looked as the third cause of non-syndromic intellectual disability (NSID), while the boundary between true disease-causing mutations and non-disease-causing variants within this gene remains elusive. To investigate the relationship between ARX mutations and NSID, a panel comprising six reported causal mutations of the ARX was detected in 369 sporadic NSID patients and 550 random participants in Chinese. Two mutations, c.428_451 dup and p.G286S, may be disease-causing mutations for NSID, while p.Q163R and p.P353L showed a great predictive value in female NSID diagnosis with significant associations (X2 = 19.60, p = 9.54e−6 for p.Q163R; X2 = 25.70, p = 4.00e−07 for p.P353L), carriers of these mutations had an increased risk of NSID of more than fourfold. Detection of this panel also predicted significant associations between genetic variants of the ARX gene and NSID (p = 3.73e−4). The present study emphasized the higher genetic burden of the ARX gene on NSID in the Chinese population, molecular analysis of this gene should be considered for patients presenting NSID of unknown etiology.