Abstract PIGT is one of over 29 glycosylphosphatidylinositol biosynthesis defect (GPIBDs) genes. Mutations cause genetically determined disorders characterized mainly by epilepsy with fever‐sensitivity, central hypotonia, psychomotor delay and congenital malformations. The disease is known as Multiple Congenital Anomalies‐Hypotonia‐Seizures Syndrome 3 (MCAHS3) or Glycosylphosphatidylinositol Biosynthesis Defect‐7. Twenty‐eight cases have been reported until today. We present seven novel...
Wed Jul 29, 2020 22:55
ABSTRACT Purpose Ocular coloboma is caused by failure of optic fissure closure during development and recognized as part of the microphthalmia, anophthalmia, and coloboma (MAC) spectrum. While many genes are known to cause colobomatous microphthalmia, relatively few have been reported in coloboma with normal eye size. Methods Genetic analysis including trio exome sequencing and Sanger sequencing was undertaken in a family with two siblings affected with bilateral coloboma of...
Wed Jul 29, 2020 20:27
Abstract Developmental and epileptic encephalopathies (DEE) encompass rare, sporadic neurodevelopmental disorders and usually with pediatric onset. As these conditions are characterized by marked clinical and genetic heterogeneity, whole‐exome sequencing (WES) represents the strategy of choice for the molecular diagnosis. While its usefulness is well‐established in pediatric DEE cohorts, our study is aimed at assessing the WES feasibility in adult DEE patients who experienced a diagnostic...
Wed Jul 29, 2020 11:15
We describe the rate and spectrum of spontaneous mutations for the social amoeba Dictyostelium discoideum, a key model organism in molecular, cellular, evolutionary, and developmental biology. Whole-genome sequencing of 37 mutation accumulation lines of D. discoideum after an average of 1,500 cell divisions yields a base-substitution mutation rate of 2.47 x 10–11 per site per generation, substantially lower than that of most eukaryotic and prokaryotic organisms, and of the same order of magnitude...
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Genetic screens in Saccharomyces cerevisiae have allowed for the identification of many genes as sensors or effectors of DNA damage, typically by comparing the fitness of genetic mutants in the presence or absence of DNA damaging treatments. However, these static screens overlook the dynamic nature of DNA damage response pathways, missing time-dependent or transient effects. Here, we examine gene dependencies in the dynamic response to ultraviolet radiation-induced DNA damage by integrating ultra-high-density...
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Abstract In an effort to characterize the people who composed the groups known as the Xiongnu, nuclear and whole mitochondrial DNA data were generated from the skeletal remains of 52 individuals excavated from the Tamir Ulaan Khoshuu (TUK) cemetery in Central Mongolia. This burial site, attributed to the Xiongnu period, was used from the first century BC to the first century AD. Kinship analyses were conducted using autosomal and Y-chromosomal DNA markers along with complete sequences...
Thu Jul 30, 2020 03:00
Abstract Cystic Fibrosis (CF) is caused most often by removal of amino acid 508 (Phe508del, deltaF508) within CFTR, yet dozens of additional CFTR variants are known to give rise to CF and many variants in the genome are known to contribute to CF pathology. To address CFTR coding variants, we developed a sequence-to-structure-to-dynamic matrix for all amino acids of CFTR using 233 vertebrate species, CFTR structure within a lipid membrane, and 20 ns of molecular dynamic simulation...
Thu Jul 30, 2020 03:00
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