Cooperative chiral order in the B-Z transition in random sequences of DNA

We present a theory for cooperative chiral order in the transition between right-handed B-DNA and left-handed Z-DNA. This theory, based on the random-field Ising model, predicts the characteristic length scale of Z-DNA segments. This length scale depends on whether the DNA is a homopolymer or a random sequence: it is approximately 4000 nucleotides in a homopolymer but only approximately 25 nucleotides in a random sequence. These theoretical results are consistent with experiments on DNA homopolymers and random sequences

Raman spectra of the smectic and nematic liquid crystal TBBA

Raman spectra of TBBA are presented for all observed phases, including three smectic phases and one nematic phase. Evidence is presented which, in conjunction with other recent experimental data, suggest that the smectic B phase is more solid-like in nature than that observed in other liquid crystal phases.On présente des spectres Raman pour toutes les phases observées du TBBA, y compris trois phases smectiques et une phase nématique. Les résultats suggèrent, conjointement avec d'autres données expérimentales, que la phase smectique B est de nature plus voisine d'un solide que les autres phases

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Purpose: Alternative splicing plays a critical role in mouse neurodevelopment, regulating neurogenesis, cortical lamination, and synaptogenesis, yet few human neurodevelopmental disorders are known to result from pathogenic variation in splicing regulator genes. Nuclear Speckle Splicing Regulator Protein 1 (NSRP1) is a ubiquitously expressed splicing regulator not known to underlie a Mendelian disorder. Methods: Exome sequencing and rare variant family-based genomics was performed as a part of the Baylor-Hopkins Center for Mendelian Genomics Initiative. Additional families were identified via GeneMatcher. Results: We identified six patients from three unrelated families with homozygous loss-of-function variants in NSRP1. Clinical features include developmental delay, epilepsy, variable microcephaly (Z-scores �0.95 to �5.60), hypotonia, and spastic cerebral palsy. Brain abnormalities included simplified gyral pattern, underopercularization, and/or vermian hypoplasia. Molecular analysis identified three pathogenic NSRP1 predicted loss-of-function variant alleles: c.13591362delAAAG (p.Glu455AlafsTer20), c.1272dupG (p.Lys425GlufsTer5), and c.52C>T (p.Gln18Ter). The two frameshift variants result in a premature termination codon in the last exon, and the mutant transcripts are predicted to escape nonsense mediated decay and cause loss of a C-terminal nuclear localization signal required for NSRP1 function. Conclusion: We establish NSRP1 as a gene for a severe autosomal recessive neurodevelopmental disease trait characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy. © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

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