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Phasing nanopore genome assembly by integrating heterozygous variations and Hi-C data.
Bioinformatics
November 2024
School of Computer Science and Engineering, Central South University, Changsha, Hunan 410083, China.
Motivation: Haplotype-resolved genome assemblies serve as vital resources in various research domains, including genomics, medicine, and pangenomics. Algorithms employing Hi-C data to generate haplotype-resolved assemblies are particularly advantageous due to its ready availability. Existing methods primarily depend on mapping quality to filter out uninformative Hi-C alignments which may be susceptible to sequencing errors.
View Article and Find Full Text PDFHeterozygote advantage can explain the extraordinary diversity of immune genes.
Elife
November 2024
Department of Ecology and Genetics, Uppsala University, Uppsala, Sweden.
The majority of highly polymorphic genes are related to immune functions and with over 100 alleles within a population, genes of the major histocompatibility complex (MHC) are the most polymorphic loci in vertebrates. How such extraordinary polymorphism arose and is maintained is controversial. One possibility is heterozygote advantage (HA), which can in principle maintain any number of alleles, but biologically explicit models based on this mechanism have so far failed to reliably predict the coexistence of significantly more than ten alleles.
View Article and Find Full Text PDFCompound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival.
FASEB J
October 2024
Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, New York, USA.
Pathogenic variants in the type I ryanodine receptor (RYR1) result in a wide range of muscle disorders referred to as RYR1-related myopathies (RYR1-RM). We developed the first RYR1-RM mouse model resulting from co-inheritance of two different RYR1 missense alleles (Ryr1 mice). Ryr1 mice exhibit a severe, early onset myopathy characterized by decreased body/muscle mass, muscle weakness, hypotrophy, reduced RYR1 expression, and unexpectedly, incomplete postnatal lethality with a plateau survival of ~50% at 12 weeks of age.
View Article and Find Full Text PDFHLA Genetic Diversity and Chronic Hepatitis B Virus Infection: Effect of Heterozygosity Advantage.
Med Sci (Basel)
August 2024
Immunology and Transplant Immunology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
This research aims to determine whether HLA heterozygosity confers a protective effect against hepatitis B virus infection by analyzing the relationship between HLA diversity and the risk of hepatitis B virus (HBV) infection. A total of 327 hepatitis B patients were selected and categorized based on their clinical status: 284 patients with chronic HBV infection and 43 patients with HBV-related liver cirrhosis (LC). The control group included 304 healthy individuals.
View Article and Find Full Text PDFCRISPR-Cas9 mediated d3GHR knockout in HEK293 cells: Revealing the longevity associated isoform stress resilience.
Exp Gerontol
October 2024
Department of Human Biology, Faculty of Natural Sciences, University of Haifa, Haifa, Israel; Departments of Medicine and Genetics, Albert Einstein College of Medicine, Bronx, NY, USA. Electronic address:
The Growth Hormone Receptor (GHR) gene encodes a protein that is essential for mediating the biological effects of growth hormone (GH). A series of molecular events are set off when GH binds to its receptor, resulting in a variety of physiological reactions linked to development, growth, and metabolism. Recently a particular genetic variation, within the GHR gene that is labeled as the "d3GHR," which lacks exon 3 was associated with longevity.
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