scholarly journals A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3

2018 ◽  
Vol 59 (15) ◽  
pp. 6102 ◽  
Author(s):  
Mark M. Hassall ◽  
Alun R. Barnard ◽  
Harry O. Orlans ◽  
Michelle E. McClements ◽  
Peter Charbel Issa ◽  
...  
Keyword(s):  
Mouse Model ◽  
Missense Change ◽  
Naturally Occurring

scholarly journals Persistence of Hepatitis B Virus DNA and the Tempos between Virion Secretion and Genome Maturation in a Mouse Model

2019 ◽  
Vol 93 (22) ◽  
Author(s):  
Szu-Yao Wu ◽  
Ya-Shu Chang ◽  
Tien-Hua Chu ◽  
Chiaho Shih
Keyword(s):  
Amino Acid ◽  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Mouse Model ◽  
Core Protein ◽  
Wild Type ◽  
Viral Dna ◽  
Naturally Occurring ◽  
B Virus

ABSTRACT Hepatitis B virus (HBV) core protein (HBc) accumulates frequent mutations in natural infection. Wild-type HBV is known to secrete predominantly virions containing mature DNA genome. However, a frequent naturally occurring HBc variant, I97L, changing from an isoleucine to a leucine at amino acid 97, exhibited an immature secretion phenotype in culture, which preferentially secretes virions containing immature genomes. In contrast, mutant P130T, changing from a proline to a threonine at amino acid 130, exhibited a hypermaturation phenotype by accumulating an excessive amount of intracellular fully mature DNA genome. Using a hydrodynamic delivery mouse model, we studied the in vivo behaviors of these two mutants, I97L and P130T. We detected no naked core particles in all hydrodynamically injected mice. Mutant I97L in mice exhibited pleiotropic phenotypes: (i) excessive numbers of serum HBV virions containing immature genomes, (ii) significantly reduced numbers of intracellular relaxed-circle and single-stranded DNAs, and (iii) less persistent intrahepatic and secreted HBV DNAs than wild-type HBV. These pleiotropic phenotypes were observed in both immunocompetent and immunodeficient mice. Although mutant P130T also displayed a hypermaturation phenotype in vivo, it cannot efficiently rescue the immature virion secretion of mutant I97L. Unexpectedly, the single mutant P130T exhibited in vivo a novel phenotype in prolonging the persistence of HBV genome in hepatocytes. Taken together, our studies provide a plausible rationale for HBV to regulate envelopment morphogenesis and virion secretion via genome maturity, which is likely to play an important role in the persistence of viral DNA in this mouse model. IMPORTANCE Chronic infection with human hepatitis B virus (HBV) could lead to cirrhosis and hepatoma. At present, there is no effective treatment to eradicate the virus from patients. HBV in chronic carriers does not exist as a single homogeneous population. The most frequent naturally occurring mutation in HBV core protein occurs at amino acid 97, changing an isoleucine to leucine (I97L). One dogma in the field is that only virions containing a mature genome are preferentially secreted into the medium. Here, we demonstrated that mutant I97L can secrete immature genome in mice. Although viral DNA of mutant I97L with immature genome is less persistent than wild-type HBV in time course experiments, viral DNA of mutant P130T with genome hypermaturation, surprisingly, is more persistent. Therefore, virion secretion regulated by genome maturity could influence viral persistence. It remains an open issue whether virion secretion could be a drug target for HBV therapy.

A Naturally Occurring Mouse Model of Achromatopsia: Characterization of the Mutation in Cone Transducin and Subsequent Retinal Phenotype

2013 ◽  
Vol 54 (5) ◽  
pp. 3350 ◽  
Author(s):  
Andrew I. Jobling ◽  
Kirstan A. Vessey ◽  
Michelle Waugh ◽  
Samuel A. Mills ◽  
Erica L. Fletcher
Keyword(s):  
Mouse Model ◽  
Naturally Occurring

Naturally-occurring porphyrins in a spontaneous-tumour bearing mouse model

2011 ◽  
Vol 10 (7) ◽  
pp. 1189 ◽  
Author(s):  
Anna Cleta Croce ◽  
Gerardo Santamaria ◽  
Uliana De Simone ◽  
Franco Lucchini ◽  
Isabel Freitas ◽  
...  
Keyword(s):  
Mouse Model ◽  
Tumour Bearing ◽  
Naturally Occurring ◽  
Tumour Bearing Mouse

scholarly journals Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15

PLoS ONE ◽  
2012 ◽  
Vol 7 (5) ◽  
pp. e35865 ◽  
Author(s):  
Debra A. Thompson ◽  
Naheed W. Khan ◽  
Mohammad I. Othman ◽  
Bo Chang ◽  
Lin Jia ◽  
...  
Keyword(s):  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Naturally Occurring

scholarly journals A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

2010 ◽  
Vol 2 (50) ◽  
pp. 50ra69-50ra69 ◽  
Author(s):  
M. Krahn ◽  
N. Wein ◽  
M. Bartoli ◽  
W. Lostal ◽  
S. Courrier ◽  
...  
Keyword(s):  
Mouse Model ◽  
Naturally Occurring

scholarly journals AAV-Mediated Cone Rescue in a Naturally Occurring Mouse Model of CNGA3-Achromatopsia

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e35250 ◽  
Author(s):  
Ji-jing Pang ◽  
Wen-Tao Deng ◽  
Xufeng Dai ◽  
Bo Lei ◽  
Drew Everhart ◽  
...  
Keyword(s):  
Mouse Model ◽  
Naturally Occurring

scholarly journals Correction: AAV-Mediated Cone Rescue in a Naturally Occurring Mouse Model of CNGA3-Achromatopsia

PLoS ONE ◽  
2014 ◽  
Vol 9 (1) ◽  
Author(s):  
Ji-jing Pang ◽  
Wen-Tao Deng ◽  
Xufeng Dai ◽  
Bo Lei ◽  
Drew Everhart ◽  
...  
Keyword(s):  
Mouse Model ◽  
Naturally Occurring
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