Hormone research in paediatrics · 2015
Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Takagi Masaki, Nishina Noriko, Yagi Hiroko, Hasegawa Yukihiro
Аннотация
BACKGROUND: To date, more than 100 mutations of NR5A1 have been reported; however, mutations affecting the splice site are rare, with only two reported mutations.
OBJECTIVE: To characterize the c.870+3_6delGAGT splice mutation of NR5A1 through molecular analyses.
RESULTS: The reverse transcription polymerase chain reaction (RT-PCR) study revealed that c.870+3_6delGAGT resulted in p.A82fs*95. Mutant NR5A1 showed a reduced transactivation on the CYP11A1 and STAR promoters without a dominant negative effect.
CONCLUSION: To the best of our knowledge, this is the first report of the NR5A1 splice site mutation, which was proven to be deleterious by the RT-PCR method.
OBJECTIVE: To characterize the c.870+3_6delGAGT splice mutation of NR5A1 through molecular analyses.
RESULTS: The reverse transcription polymerase chain reaction (RT-PCR) study revealed that c.870+3_6delGAGT resulted in p.A82fs*95. Mutant NR5A1 showed a reduced transactivation on the CYP11A1 and STAR promoters without a dominant negative effect.
CONCLUSION: To the best of our knowledge, this is the first report of the NR5A1 splice site mutation, which was proven to be deleterious by the RT-PCR method.