Anthropogenic environmental modification is placing as many as 1 million species at risk of extinction. One management action for reducing extinction risk is translocation of individuals to locations from which they have disappeared or to new locations where biologists hypothesize they have a good chance of surviving. To maximize this survival probability, the standard practice is to move animals from the closest possible populations that contain presumably related individuals. In an empirical test of this conventional wisdom, we analyzed a genomic dataset for 166 translocated desert tortoises () that either survived or died over a period of two decades. We used genomic data to infer the geographic origin of translocated tortoises and found that individual heterozygosity predicted tortoise survival, whereas translocation distance or geographic unit of origin did not. Our results suggest a relatively simple indicator of the likelihood of a translocated individual's survival: heterozygosity.
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http://dx.doi.org/10.1126/science.abb0421 | DOI Listing |
Neurosurg Rev
January 2025
Department of Neurosurgery, Saarland University Medical Center, Homburg, Germany.
Deletion of the short arm of chromosome 1 (1p) increases recurrence rates in meningiomas by up to 33%, regardless of tumor grade, correlating with absence of intracellular alkaline phosphatase enzyme activity. Current screening methods for 1p deletion like fluorescence in situ hybridization (FISH) and loss of heterozygosity (LOH) analysis are resource-intensive. This study evaluated AlkaPhos, a novel fluorescent probe, for detecting alkaline phosphatase in meningioma cells and compared findings with FISH, LOH, and histochemical analysis.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFFront Immunol
January 2025
Blood Group Reference Laboratory, Dalian Blood Center, Dalian, China.
Background: Mutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio sequencing to uncover a novel allele arising from an intron splice site mutation, which altered the expected A phenotype to manifest as an Ael phenotype. The study aimed to characterize the molecular mechanism underlying this phenotypic switch.
View Article and Find Full Text PDFNeurogenetics
January 2025
Department of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Background: Mutations in the LARS2 gene are correlated with Perrault syndrome, a rare autosomal recessive genetic disorder, that is typically characterized by sensorineural hearing loss and ovarian insufficiency.
Methods: Whole-exome sequencing and mutational analysis were employed to identify hearing loss-causing genes in a Chinese family from the Guangxi Zhuang Autonomous Region. Clinical phenotypes, audiological data, and color Doppler ultrasound of the family were collected, and a series of computer software were used to analyze the impact of genetic variations on protein structure and function.
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