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Submicroscopic copy number variants in Indian children with gene panel negative 46, XY Gonadal Dysgenesis: An exploratory study using comparative genomic hybridization.
Andrology
January 2025
Division of Pediatric Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Background: 46, XY disorders of sex development (DSD) are a group of highly heterogeneous conditions in which the molecular etiology remains unknown in a significant proportion of patients, even with massive parallel sequencing. Clinically significant copy number variants (CNVs) are identified in 20-30% of cases, particularly among those with gonadal dysgenesis (GD) and no molecular diagnosis.
Methods: Fourteen patients with 46, XY DSD due to GD in whom no pathogenic/likely pathogenic variants were found on next-generation sequencing using a targeted panel of 155 genes were screened for clinically significant CNVs using Affymetrix Comparative Genomic Hybridization (CGH).
A genome-wide atlas of human cell morphology.
Nat Methods
January 2025
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
A key challenge of the modern genomics era is developing empirical data-driven representations of gene function. Here we present the first unbiased morphology-based genome-wide perturbation atlas in human cells, containing three genome-wide genotype-phenotype maps comprising CRISPR-Cas9-based knockouts of >20,000 genes in >30 million cells. Our optical pooled cell profiling platform (PERISCOPE) combines a destainable high-dimensional phenotyping panel (based on Cell Painting) with optical sequencing of molecular barcodes and a scalable open-source analysis pipeline to facilitate massively parallel screening of pooled perturbation libraries.
View Article and Find Full Text PDFinfects the urogenital tract of men and women and causes the sexually transmitted infection trichomoniasis. Since the publication of its draft genome in 2007, the genome has drawn attention for several reasons, including its unusually large size, massive expansion of gene families, and high repeat content. The fragmented nature of the draft assembly made it challenging to obtain accurate metrics of features, such as spliceosomal introns.
View Article and Find Full Text PDFMassive gene loss in the fungus Sporothrix epigloea accompanied a shift to life in a glucuronoxylomannan-based gel matrix.
Genome Biol Evol
January 2025
Department of Biological Sciences, University of Alberta, BS CW405 Edmonton, AB, T6G 2R3, Canada.
Fungi are well known for their ability to both produce and catabolize complex carbohydrates to acquire carbon, often in the most extreme of environments. Glucuronoxylomannan (GXM)-based gel matrices are widely produced by fungi in nature and though they are of key interest in medicine and pharmaceuticals, their biodegradation is poorly understood. Though some organisms, including other fungi, are adapted to life in and on GXM-like matrices in nature, they are almost entirely unstudied, and it is unknown if they are involved in matrix degradation.
View Article and Find Full Text PDFBehavior and oxidative stress evaluation of scorpion Tityusserrulatus (Lutz & Mello,1922) envenomation with genomic modulation and dopaminergic neutralization by antiscorpionic serum treatment.
Toxicon
January 2025
Laboratory of Experimental Pathophysiology, Universidade Do Extremo Sul Catarinense. Universitário, 88806-000. Criciúma. Santa Catarina, Brazil. Electronic address:
Tityus serrulatus accident promote vast symptomatology related to toxins of the venom, which leads to a massive release of neurotransmitters, notably dopamine, affecting behavior and neurochemistry. The recommended treatment for envenomation is the antiscorpionic serum (SAEsc) administration. Related to this complexity of the Tityus serrulatus envenomation, this study aimed to assess organism responses to the venom, its impact on behavior, oxidative stress, neurochemistry, and genetic impacts, as well as the efficacy of SAEsc, especially concerning dopamine levels and genetic interactions.
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