Publications by authors named "H A Erlich"
Article Synopsis
- The DPB1 locus shows allele frequencies influenced by genetic drift, but specific amino acids at this locus are shaped by balancing selection, suggesting a complex relationship between drift and selection in genetic diversity.
- Using Ewens-Watterson and asymmetric Linkage Disequilibrium analyses across 136 global populations, researchers found strong evidence of balancing selection affecting DP serologic categories (SCs), while no similar selection was observed for T-cell epitopes or supertypes.
- The distribution of different SCs varies globally, with specific SCs prevalent in distinct regions, and the study highlights consistent associations between DPA1 and DP SC haplotypes, indicating that natural selection is primarily acting to preserve diversity in DP SCs rather than DPB1 alle
Article Synopsis
- - Although most HLA loci show signs of balancing selection at the allele level, the DPB1 locus appears to follow neutral evolution or directional selection in many populations, despite evidence of balancing selection at the nucleotide and amino acid levels.
- - The study introduces methods to analyze the global distribution of DPB1 alleles and their amino acid sequences, allowing for a detailed investigation of natural selection's role in DPB1 diversity.
- - Findings reveal significant evidence of balancing selection at specific amino acid positions (56, 85-87, 36, 55, and 84), but not at the allele level for DPB1.
Aim: To develop a non-invasive prenatal test for beta-hemoglobinopathies based on analyzing maternal plasma by using next generation sequencing.
Methods: We applied next generation sequencing (NGS) of maternal plasma to the non-invasive prenatal testing (NIPT) of autosomal recessive diseases, sickle cell disease and beta-thalassemia. Using the Illumina MiSeq, we sequenced plasma libraries obtained via a Twist Bioscience probe capture panel covering 4 Kb of chromosome 11, including the beta-globin (HBB) gene and >450 genomic single-nucleotide polymorphisms (SNPs) used to estimate the fetal fraction (FF).
One of the mechanisms by which viruses can evade the host's immune system is to modify the host's DNA methylation pattern. This work aims to investigate the DNA methylation and gene expression profile of COVID-19 patients, divided into symptomatic and asymptomatic, and healthy controls, focusing on genes involved in the immune response. In this study, changes in the methylome of COVID-19 patients' upper airways cells, the first barrier against respiratory infections and the first cells presenting viral antigens, are shown for the first time.
View Article and Find Full Text PDFAcute lymphoblastic leukemia (ALL) in children is associated with a distinct neonatal cytokine profile. The basis of this neonatal immune phenotype is unknown but potentially related to maternal-fetal immune receptor interactions. We conducted a case-control study of 226 case child-mother pairs and 404 control child-mother pairs to evaluate the role of interaction between HLA genotypes in the offspring and maternal killer immunoglobulin-like receptor (KIR) genotypes in the etiology of childhood ALL, while considering potential mediation by neonatal cytokines and the immune-modulating enzyme arginase-II (ARG-II).
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