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Mutation - OSTI GOV

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Last Updated: 04 June 2022

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Characteristics of induced mutations in offspring derived from irradiated mouse spermatogonia and mature oocytes

"The exposure of germ cells to radiation leads to mutations in offspring's genomes, and a previous whole-genome sequencing report found that the irradiation of mouse sperm leads to mutations and multisite mutations. " However, the existing research on mutation spectra is limited, and the effects of radiation exposure on germ cells at other than the sperm stage remain unclear. In the autosomal regions of each F1 individual, the researchers revealed that radiation exposure, 4 Gy of gamma rays, resulted in 9. 6 indels and 2. 5 multisite mutations in spermatogonia and 4. 7 indels and 2. 5 multisite mutations in mature oocytes and 3. 1 multisite mutations in mature oocytes in mature oocytes in mature oocytes in the autosomal regions of each F1 individual'.

Source link: https://www.osti.gov/biblio/1624520


Overexpression of a developing xylem cDNA library in transgenic poplar generates high mutation rate specific to wood formation

"We investigated the possibility of the Full-length complementary DNA OvereXpression system as a mutagenesis strategy in poplar, using growing xylem tissue. " The primary aim was to determine the overall mutation rate and whether the device would increase the incidence of mutants with xylem tissue genetics. Mutations in cell wall composition, according to Enrichment of mutants affected by the FOX library's tissue source, triggering the appearance of mutants with a characteristic specific to this tissue. In addition, we discovered that FLcDNAs from mutants affected by cell wall biosynthesis were homologous to genes involved in cell wall biosynthesis, and that the majority of recovered FLcDNAs related to genes whose native expression was highest in xylem. Enhanced cytokinin concentration in the mutant and recapitulation overexpression experiment, wherein several independent lines phenocopied the original FOX mutant, highlighting the original FOX mutant.

Source link: https://www.osti.gov/biblio/1815595


Perturbed myoepithelial cell differentiation in BRCA mutation carriers and in ductal carcinoma in situ

"We investigated myoepithelial cells in normal breast tissue of BRCA1 and BRCA2 germline mutation carriers, in non-carrier studies, and in sporadic DCIS. " We discovered that in the normal breast of non-carriers, myoepithelial cells co-express the p63 and TCF7 transcription factors, and that p63 and TCF7 chromatin peaks associated with distinct myoepithelium-specific genes. These myoepithelial variations in normal breast tissues of BRCA1 germline mutation carriers may have a role in their elevated risk of breast cancer. ".

Source link: https://www.osti.gov/biblio/1572055


Deleterious Mutation Burden and Its Association with Complex Traits in Sorghum (Sorghum bicolor)

"Sorghum is a common food cereal for millions of people around the world. " We investigated putative deleterious mutations in a slew of 229 different biomass sorghum lines, and learned how deleterious variants influence phenotypes. The pattern of mutation burden varies among ethnic groups. The mutation burden decreased trait quality across racial groups, correlated negatively with biomass, plant height, a geographical region, and tissue starch content, according to the author. The contribution of putatively deleterious variants to phenotypic diversity, in turn, appears to be influenced by genetic architecture of traits. Overall, these results show that incorporating putatively deleterious variants into genomic models marginally improves prediction accuracy due to extensive linkage. Any gene editing or conventional breeding that emphasizes the selection of progeny with fewer deleterious alleles may be used for sorghum breeding.

Source link: https://www.osti.gov/biblio/1510283


The Genetic Basis of Mutation Rate Variation in Yeast

"Here, we used the success of Saccharomyces cerevisiae as a model system to find natural genetic variants that explain variation in mutation rates. " A cross between BY, a laboratory strain, and RM, a wine strain, was used to determine mutation rates in seven natural yeast isolates and in 1040 segregant progeny. "In the cross, we conducted linkage mapping in the segregants and discovered four quantitative trait loci that explains mutation rate variation in the cross. ".

Source link: https://www.osti.gov/biblio/1591804


Systematic Analysis of Splice-Site-Creating Mutations in Cancer

"TP53 and GATA3 have 26 and 18 SCMs, respectively, and ATRX has 5 from lower-grade gliomas, respectively. Certainly, neoantigens induced by SCMs are several folds more immunogenic than to missense mutations, as shown by the recently recurrent GATA3 SCM. PD-1 and PD-L1 were also present in tumors with SCMs, suggesting candidates for immune blockade therapy. Our findings, in addition, highlight the importance of integrating DNA and RNA data for investigating the functional and clinical consequences of mutations in human diseases.

Source link: https://www.osti.gov/biblio/1433509


Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas: Mutational signature associated with MUTYH deficiency in cancers

"Germline mutations in DNA repair genes are often involved in cancer predisposition and can result in characteristic mutational signatures. " In three tumors from a MUTYH-associated polyposis patient and in two cases harbouring pathogenic germline mutations, we found a specific pattern of somatic mutations in NpCpA or NpCpT contexts.

Source link: https://www.osti.gov/biblio/1351189


Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

"Mutations that occur early in embryogenesis are often present in a substantial amount of, but not all, cells in postnatal humans and have specific characteristics and effects. " Although it is known that gross chromosomal abnormalities in early human embryos are extremely common, early human embryos' understanding of early embryonic somatic mutations is still poor. Here we use whole-genome sequences of normal blood from 241 adults to identify 163 early embryonic mutations in 163 early embryonic mutations. We estimate that around three base substitution mutations per cell-doubling event in early human embryogenesis are per cell, mainly due to two common mutation signatures. The mutations were used to reconstruct developmental lineages of adult cells and show that the two daughter cells of several early embryonic cell-doubling events contribute asymmetrically to adult blood at an approximately 2:1 ratio.

Source link: https://www.osti.gov/biblio/1356130


Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

"In patients with various inherited skin disorders, but not in connexin-related disease. " We wanted to investigate the underlying molecular causes of suspected RM in the skin of a patient with keratitis-ichthyosis-deafness syndrome. Five somatic nonsynonymous mutations were identified in cis with the p. Asn mutation, according to Ultra-deep sequencing of two healthy-looking skin biopsies that were independently present in cis with the p. Asn mutation. Cx26-Asn and wild-type Cx26 in HeLa cells were co-expression of Cx26-Asn and wild-type Cx26 in gap junction channel plaques, according to functional experiments. However, Cx26-Asn with the second-site mutations found in the patient did not produce any gap junction channel plaques, according to the patient. We show that the second-site mutations independently inhibit Cx26-Asn expression in gap junction channels, reversing the predominant negative effect of the p. Asn mutation. Finally, to our knowledge, this is the first time RM has been reported to result in the formation of healthy-looking skin in a patient with KID syndrome.

Source link: https://www.osti.gov/biblio/1351191


A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers

"Somatic rearrangements contribute to the mutagenized landscape of cancer genomes," the author explained. Notably, these tandem-duplication hotspots were enhanced in breast cancer germline susceptibility loci and breast-specific'super-enhancer' regulatory elements, as shown above. These hotspots may be points of selective susceptibility to double-strand-break damage due to high transcriptional activity, or, by gradually increasing copy number, could be sources of secondary selective pressure. In addition, transcriptomic consequences ranged from high individual oncogene effects to weak but quantifiable multigene expression effects. ".

Source link: https://www.osti.gov/biblio/1341860

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions