Assessing the Potential of an Induced-Mutation Strategy for Avermectin Overproducers

ABSTRACT Mutant libraries of avermectin-producing Streptomyces avermitilis strains were constructed by different mutagenesis strategies. A metric was applied to assess the mutation spectrum by calculating the distribution of average phenotypic distance of each population. The results showed for the first time that a microgravity environment could introduce larger phenotype distribution and diversity than UV and N-methyl-N-nitro-N-nitrosoguanidine (NTG) could.

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Influence of the UV-activated SOS response on the γ-radiation-induced mutation spectrum in the lacI gene

Mutation Research/DNA Repair ◽

10.1016/s0921-8777(98)00034-2 ◽

1998 ◽

Vol 408 (3) ◽

pp. 195-201 ◽

Cited By ~ 6

Author(s):

Carola A. Wijker ◽

M.Vincent M. Lafleur

Keyword(s):

Sos Response ◽

Mutation Spectrum ◽

Γ Radiation ◽

Induced Mutation ◽

Laci Gene ◽

Radiation Induced

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Singlet Oxygen induced mutation spectrum in mammalian cells

Nucleic Acids Research ◽

10.1093/nar/20.16.4319 ◽

1992 ◽

Vol 20 (16) ◽

pp. 4319-4323 ◽

Cited By ~ 32

Author(s):

Reginas Costa de Biologia ◽

Denise T. Riberio ◽

Rogerio G. Nigro ◽

Paolo Di Mascio ◽

Carlos F.M. Menck

Keyword(s):

Singlet Oxygen ◽

Mammalian Cells ◽

Mutation Spectrum ◽

Induced Mutation

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The influence of formamidopyrimidine-DNA glycosylase on the spontaneous and γ-radiation-induced mutation spectrum of the lacZα gene

Mutation Research/DNA Repair ◽

10.1016/s0921-8777(99)00043-9 ◽

1999 ◽

Vol 435 (2) ◽

pp. 141-150 ◽

Cited By ~ 9

Author(s):

Gitta K Kuipers ◽

Hester A Poldervaart ◽

Ben J Slotman ◽

M.Vincent M Lafleur

Keyword(s):

Dna Glycosylase ◽

Mutation Spectrum ◽

Γ Radiation ◽

Induced Mutation ◽

Radiation Induced

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Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population

Journal of Pediatric Genetics ◽

10.1055/s-0040-1716495 ◽

2020 ◽

Author(s):

Shruthi Sudarshan ◽

Atin Kumar ◽

Arun Gupta ◽

Neetu Bhari ◽

Gomathy Sethuraman ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Indian Population ◽

Mutation Spectrum ◽

Presenting Symptoms ◽

Complex Patients ◽

Tsc1 Gene ◽

Detailed Assessment ◽

Large Rearrangements ◽

First Time

AbstractTuberous sclerosis complex (TSC) is a multiorgan disorder characterized by formation of hamartomas and broad phenotypic spectrum including seizures, mental retardation, renal dysfunction, skin manifestations and brain tubers. It is inherited in an autosomal dominant pattern, caused due to mutation in either TSC1 or TSC2 genes. Seizures are one of the major presenting symptoms of TSC that helps in early diagnosis. The present study describes the mutation spectrum in TSC1 and TSC2 genes in TSC patients and their association with neurocognitive-behavioral phenotypes. Ninety-eight TSC patients were enrolled for TSC genetic testing after detailed clinical and neurobehavioral assessment. Large genomic rearrangement testing was performed by multiplex ligation-dependent probe amplification (MLPA) technique for all cases and Sanger sequencing was performed for MLPA negative cases. Large rearrangements were identified in approximately 1% in TSC1 and 14.3% in TSC2 genes. The present study observed the presence of duplications in two (2%) cases, both involving TSC2/PKD1 contiguous genes which to the best of our knowledge is reported for the first time. 8.1% of small variants were identified in the TSC1 gene and 85.7% in TSC2 gene, out of which 23 were novel variations and no variants were found in six (6.1%) cases. This study provides a representative picture of the distribution of variants in the TSC1 and TSC2 genes in Indian population along with the detailed assessment of neurological symptoms. This is the largest cohort study from India providing an overview of comprehensive clinical and molecular spectrum.

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