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Uveal melanoma (UM) is a rare subtype of melanoma but the most frequent primary cancer of the eye in adults. The goal of this study was to research the genetic causes of UM through a comprehensive frequency analysis of base-pair mismatches in patient genomes. Results showed a total of 130 genetic mutations, including seven recurrent mutations, with most mutations occurring in chromosomes 3 and X. Recurrent mutations varied from 8.7% to 17.39% occurrence in the UM patient sample, with all mutations identified as missense. These findings suggest that UM is a recessive heterogeneous disease with selective homozygous mutations. Notably, this study has potential wider significance because the seven genes targeted by recurrent mutations are also involved in other cancers.

Cilia are little hair-like protrusions on many cells in the human body, including those lining the trachea where they play a role in clearing our respiratory tract of mucous and other irritants. Genetic mutations that impair ciliary function have serious consequences on our well-being making it important to understand how ciliary function is regulated. By using a simple organism, such as the worm C. elegans that use cilia to move, the authors explore the effect of certain genetic mutations on the cilia of the worms by measuring their ability to move towards or away from certain odorants.

Caenorhabditis elegans xpa-1 and him-1 are orthologs of human XPA and human SMC1A, respectively. Mutations in the XPA are correlated with Xeroderma pigmentosum, a condition that induces hypersensitivity to ultraviolet (UV) radiation. Alternatively, SMC1A mutations may lead to Cornelia de Lange Syndrome, a multi-organ disorder that makes patients more sensitive to UVinduced DNA damage. Both C. elegans genes have been found to be involved in protection against UV radiation, but their combined effects have not been tested when they are both knocked down. The authors hypothesized that because these genes are involved in separate pathways, the simultaneous knockdown of both of these genes using RNA interference (RNAi) in C. elegans will cause them to become more sensitive to UV radiation than either of them knocked down individually. UV protection was measured via the percent survival of C. elegans post 365 nm and 5.4x10-19 joules of UV radiation. The double xpa-1/him-1 RNAi knockdown showed a significantly reduced percent survival after 15 and 30 minutes of UV radiation relative to wild-type and xpa-1 and him-1 single knockdowns. These measurements were consistent with their hypothesis and demonstrated that xpa-1 and him-1 genes play distinct roles in resistance against UV stress in C. elegans. This result raises the possibility that the xpa-1/him-1 double knockdown could be useful as an animal model for studying the human disease Xeroderma pigmentosum and Cornelia de Lange Syndrome.

Autism Spectrum Disorder (ASD) and Alzheimer's Disease (AD) are distinct conditions, but research suggests a link, as individuals with ASD are 2.5 times more likely to develop AD. A study employing genome-wide association studies and Mendelian randomization revealed shared genetic factors, particularly in synaptic regulation pathways, that may increase the risk of AD in those with ASD. These findings provide insights into the genetic underpinnings connecting the two disorders.

Although the United States maintains millions of square kilometers of nature reserves to protect the biodiversity of the specimens living there, little is known about how confining these species within designated protected lands influences the genetic variation required for a healthy population. In this study, the authors sequenced genetic barcodes of insects from a recently established nature reserve, the Southwestern Riverside County Multi-Species Reserve (SWRCMSR), and a non-protected area, the Mt. San Jacinto College (MSJC) Menifee campus, to compare the genetic variation between the two populations. Their results demonstrated that the midge fly population from the SWRCMSR had fewer unique DNA barcode sequence changes than the MSJC population, indicating that the comparatively younger nature reserve's population had likely not yet established its own unique genetic drift changes.

Here the authors sought to understand the effects of different variables that may be tied to pollution and climate change on genetic variation of Pacific white-sided dolphins, a species that is currently threatened by water pollution. Based on environmental data collected alongside a genetic distance matrix, they found that ocean currents had the most significant impact on the genetic diversity of Pacific white-sided dolphins along the Japanese coast.

Although the 5-year survival rate for colorectal cancer is below 10%, it increases to greater than 90% if it is diagnosed early. We hypothesized from our research that analyzing non-synonymous single nucleotide variants (SNVs) in a patient's exome sequence would be an indicator for high genetic risk of developing colorectal cancer.

Here the authors used morphological characters and DNA barcoding to identify arthropods found within a residential house. With this method they identified their species and compared them against pests lists provided by the US government. They found that none of their identified species were considered to be pests providing evidence against the misconception that arthropods found at home are harmful to humans. They suggest that these methods could be used at larger scales to better understand and aid in mapping ecosystems.

Ecological corridors are geographic features designated to allow the movement of wildlife populations between habitats that have been fragmented by human landscapes. Corridors can be a pivotal aspect in wildlife conservation because they preserve a suitable habitat for isolated populations to live and intermingle. Here, two students simulate the effect of introducing a safety corridor for cheetahs, based on real tracking data on cheetahs in Namibia.

Here, the authors investigated engagement with #GMOFOODS, a hashtag on TikTok. They hypothesized that content focused on the negative effects of genetically modified organisms would receive more interaction driven by consumers. They found that the most common cateogry focused on the disadvantages of GMOs related to nutrition and health with the number of views determining if the video would be provided to users.