The Alu family of interspersed repeats is comprised of over 500,000 members which may be divided into discrete subfamilies based upon mutations held in common between members. Distinct subfamilies of Alu sequences have amplified within the human genome in recent evolutionary history. Several individual Alu family members have amplified so recently in human evolution that they are variable as to presence and absence at specific loci within different human populations. Here, we report on the distribution of six polymorphic Alu insertions in a survey of 563 individuals from 14 human population groups across several continents. Our results indicate that these polymorphic Alu insertions probably have an African origin and that there is a much smaller amount of genetic variation between European populations than that found between other population groups.
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http://dx.doi.org/10.1007/BF00163207 | DOI Listing |
Unlabelled: Recent studies report the genetic loss of the lariat debranching enzyme ( ) activity increases susceptibility to viral infection. Here, we show that more than 25% of human introns contain large hairpin structures created by the folding of two elements inserted in opposite orientation. In wildtype cells, this large reservoir of endogenous dsRNA is efficiently degraded.
View Article and Find Full Text PDFMol Genet Genomic Med
December 2024
University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Background: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders affecting millions worldwide. Despite the widespread adoption of next-generation sequencing (NGS) panels, there remains a critical gap in the genetically diverse and understudied African populations.
Methods: One hundred and thirty-five South African patients affected by various IRDs underwent NGS using a custom-targeted panel sequencing over 100 known genes.
Genet Med Open
September 2024
Université de Sherbrooke, Sherbrooke, QC, Canada.
Pathology
February 2025
Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
Genes (Basel)
September 2024
Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Republic of Korea.
element insertion in the exon 4 of the gene was newly identified through whole genome sequencing (WGS). This was not detected in previous next-generation sequencing (NGS) analysis. We report three cases of Korean retinitis pigmentosa (RP) patients with compound heterozygous variants including element insertion in the gene, indicating that element insertion could be a cause of RP; Among patients diagnosed with RP having variants in the gene in the Asan Medical Center, WGS was additionally performed for genetically unsolved cases in previous NGS analysis to detect any presence of element insertion.
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