. Scientific Frontline: Genomics
Showing posts with label Genomics. Show all posts
Showing posts with label Genomics. Show all posts

Sunday, March 15, 2026

New research reveals how development and sex shape the brain

Image Credit: Scientific Frontline

Scientific Frontline: Extended "At a Glance" Summary
: Neural Development and Sexual Dimorphism in the Brain

The Core Concept: A high-resolution molecular atlas of the adult Drosophila melanogaster (fruit fly) brain demonstrates that neurons retain a genetic record of their developmental origins, and that sex-specific behavioral circuits arise from a shared developmental template. Rather than building entirely separate circuits, sexual dimorphism in the brain is achieved through selective neuronal survival within shared cell lineages.

Key Distinction/Mechanism: Unlike the assumption that male and female brains utilize distinctly separate neural circuits, this research demonstrates that sex differences emerge by modifying when and which neurons persist during development. Female-biased neurons tend to develop earlier in the cycle, while male-biased neurons emerge later, leveraging distinct developmental windows to shape behavioral diversity from the same biological blueprint.

Origin/History: Published on March 12, 2026, across two companion studies in Cell Genomics by researchers from the University of Oxford. The work was led by Professor Stephen Goodwin's group in the Department of Physiology, Anatomy and Genetics (DPAG), supported by the Wellcome Trust and the Biotechnology and Biological Sciences Research Council.

Monday, March 9, 2026

Study reveals worrying extent of imprecise gene and gene mutation naming

Image Credit: Scientific Frontline

Scientific Frontline: "At a Glance" Summary
: Imprecise Gene and Mutation Naming

  • Main Discovery: A systematic review of scientific manuscripts revealed a universal failure to accurately name critical gene mutations, with not a single paper applying standardized genomic nomenclature correctly.
  • Methodology: Researchers analyzed 52 scientific papers submitted by multiple scientists to the Genetics in Medicine Journal over a two-year period to evaluate the precision and accuracy of gene and variant naming conventions.
  • Key Data: Every analyzed manuscript contained at least one naming error, a widespread inaccuracy that directly contributes to the 70% of rare genetic diseases that currently go undiagnosed.
  • Significance: Inconsistent variant naming severely impedes the discoverability of diagnostic evidence in databases and routine searches, leading to missed diagnoses, incorrect clinical management, and avoidable healthcare costs reaching billions of dollars per decade.
  • Future Application: These findings are driving the development of a new global professional standard led by the American College of Medical Genetics and Genomics to enforce strict, minimal acceptable standards for variant data in clinical reporting, literature, and databases.
  • Branch of Science: Clinical Genomics and Medical Genetics
  • Additional Detail: Experts strongly recommend universally adopting automated naming tools, such as VariantValidator, and enforcing strict nomenclature compliance during the peer review process to prevent critical data from being lost.

Tuesday, February 24, 2026

How Studying Yeast in the Gut Could Lead to New, Better Drugs

Image Credit: Aakash Dhage

Scientific Frontline: "At a Glance" Summary
: Yeast Gut Drug Delivery

  • Main Discovery: Transcriptomic mapping of the probiotic yeast Saccharomyces boulardii within the mammalian gut revealed specific gene activation patterns distinct from laboratory cultures, characterized by distinct metabolic flexibility and stress adaptation mechanisms.
  • Methodology: Researchers introduced unmodified Saccharomyces boulardii yeast cells into germ-free laboratory mice lacking a native microbiome. Intestinal and fecal samples were collected to isolate and measure the yeast RNA, allowing exact quantification of gene expression as the cells navigated the digestive system.
  • Key Data: Gene expression analysis demonstrated significant upregulation of genes responsible for fatty acid oxidation, specifically POX1, FOX2, SPS19, PXA1, and PXA2, as well as amino acid intake genes, indicating the yeast digests more lipids than complex carbohydrates in the gut.
  • Significance: Identifying the specific DNA promoter regions that activate exclusively in the gut provides distinct biological switches. These genetic switches can be targeted to ensure therapeutic molecules are produced precisely when the yeast reaches the digestive tract.
  • Future Application: The transcriptomic roadmap enables the direct genetic engineering of Saccharomyces boulardii into living drug-delivery platforms capable of synthesizing targeted pharmaceuticals on-site to address inflammation and specific intestinal diseases.
  • Branch of Science: Genomics, Microbiology, and Chemical and Biomolecular Engineering.
  • Additional Detail: The study confirmed that genes associated with potentially pathogenic behaviors remain entirely unactivated during gut transit, validating the biological safety profile of utilizing this species as a foundational platform for live biotherapeutics.

Thursday, February 12, 2026

Plants retain a ‘genetic memory’ of past population crashes

Image Credit: Scientific Frontline

Scientific Frontline: "At a Glance" Summary

  • Main Discovery: Plant populations within fragmented landscapes retain persistent genetic signatures of past demographic crashes, specifically reduced genetic diversity and increased inbreeding, which remain detectable long after the population size appears to have recovered.
  • Methodology: Researchers constructed a reference genome for the native North American plant Impatiens capensis (jewelweed) and utilized demographic modeling to analyze genetic samples from isolated patches in Wisconsin, reconstructing historical periods of growth, decline, and recovery.
  • Key Data: Populations that underwent severe historical bottlenecks displayed genomes with significantly reduced recombination—described as "poorly shuffled"—which causes beneficial genetic variants to remain trapped within large blocks of DNA rather than being freely available for evolutionary selection.
  • Significance: The study demonstrates that conservation assessments based solely on current census size or habitat area are insufficient, as they fail to account for hidden genetic vulnerabilities that compromise a species' capacity to adapt to environmental stressors like climate change and disease.
  • Future Application: Findings from this model system are currently being applied to refine conservation strategies for the declining Lupinus perennis (Sundial Lupine), integrating genetic history into land-use and restoration planning for endangered flora.
  • Branch of Science: Conservation Genomics and Evolutionary Biology.
  • Additional Detail: The research highlights that self-pollinating species are particularly susceptible to this "genetic memory" because they can establish functional populations with very few individuals, thereby perpetuating the effects of genetic bottlenecks.

Tuesday, February 10, 2026

Engineered moths could replace mice in research into “one of the biggest threats to human health”

CRISPR/Cas9 technology in Galleria mellonella (greater wax moth) enables precise gene editing and the generation of transgenic lines, enhancing its use as an ethical, low-cost in vivo model for infection biology and antimicrobial resistance research
Image Credit: Courtesy of University of Exeter

Scientific Frontline: "At a Glance" Summary

  • Main Discovery: Scientists at the University of Exeter have developed the world's first genetically engineered greater wax moths (Galleria mellonella) to serve as advanced alternatives to rodents in infection research.
  • Methodology: The research team adapted genetic tools originally designed for fruit flies, utilizing PiggyBac mediated transgenesis and CRISPR/Cas9 knockout techniques to create fluorescent and gene-edited moth lines.
  • Key Data: Replacing just 10% of UK infection biology studies with these engineered moths would spare approximately 10,000 mice annually from the estimated 100,000 currently utilized.
  • Significance: This development addresses the critical bottleneck in antimicrobial resistance (AMR) testing by providing a scalable, ethical non-mammalian model that survives at human body temperature (37°C) and mimics mammalian immune responses.
  • Future Application: The creation of "sensor moths" that fluoresce upon infection or antibiotic contact will allow for real-time, visual monitoring of disease processes and rapid drug screening.
  • Branch of Science: Biotechnology and Infection Biology
  • Additional Detail: All developed protocols and genetic resources have been made openly available through the Galleria Mellonella Research Center to accelerate global standardization and adoption.

Monday, February 9, 2026

Physical pressure on the brain triggers neurons’ self-destruction programming

Anna Wenninger and Maksym Zarodniuk demonstrate a research project in the Patzke Lab.
Photo Credit: Michael Caterina/University of Notre Dame

Scientific Frontline: "At a Glance" Summary

  • Main Discovery: Chronic physical compression on the brain, such as that exerted by a growing tumor, triggers specific molecular pathways that program neurons to self-destruct, independent of direct tissue invasion.
  • Methodology: Researchers created a model neural network using induced pluripotent stem cells (iPSCs) to mimic the brain's environment, applied mechanical pressure to simulate glioblastoma growth, and analyzed the resulting cellular responses via mRNA sequencing and preclinical live models.
  • Key Data: The sequencing revealed a marked increase in HIF-1 molecules and AP-1 gene expression in compressed cells, specific biomarkers indicating stress adaptation and neuroinflammation that precipitate neuronal death and synaptic dysfunction.
  • Significance: This study isolates mechanical force as a critical, independent factor in neurodegeneration, explaining why patients with brain tumors often suffer from cognitive decline, motor deficits, and seizures even in non-cancerous brain regions.
  • Future Application: Identifying these specific death-signaling pathways provides novel targets for drugs designed to block mechanically induced neuron loss, with potential relevance for treating traumatic brain injury (TBI) alongside brain cancer.
  • Branch of Science: Neuroscience, Bioengineering, and Oncology.

Wednesday, February 4, 2026

German Shepherd Dogs: Bottleneck effects shape breeding

Photo Credit: Steve Smith

Scientific Frontline: "At a Glance" Summary

  • Main Discovery: Analyses of historical genomes reveal that German Shepherd Dogs experienced significant genetic bottlenecks primarily after World War II and through the excessive use of popular sires, resulting in a massive drop in genetic diversity compared to early 20th-century specimens.
  • Methodology: Researchers sequenced the genomes of nine historical German Shepherd Dogs from the Natural History Museum in Bern (living between 1906 and 1993) and compared them against medieval European dog genomes and modern shepherd representatives to trace diversity loss over time.
  • Key Data: The most recent significant bottleneck in European German Shepherd Dogs was traced specifically to 1967, coinciding with the birth of the popular sire "Quanto von der Wienerau," marking a distinct spike in homozygous genomic segments despite a lack of pedigree-based inbreeding signs.
  • Significance: The study clarifies that while an initial bottleneck occurred during breed formation, the critical reduction in genetic health and increased susceptibility to heritable disorders were driven largely by 20th-century population declines and intensive breeding practices rather than breed establishment alone.
  • Future Application: Genetic health of the breed can be most effectively improved by incorporating dogs from countries or lineages that did not undergo these specific historical bottlenecks, thereby maintaining purebred status while maximizing longevity.
  • Branch of Science: Paleogenetics / Evolutionary Genomics
  • Additional Detail: Investigations into wolf-dog hybridization (e.g., Saarloos and Czechoslovakian Wolfdogs) demonstrated that introducing wolf ancestry provided only short-term diversity benefits, as subsequent closed-pool breeding quickly negated the genetic gains.

Tiny mutation, big impact on schizophrenia treatment

Image Credit: Scientific Frontline

Scientific Frontline: "At a Glance" Summary

  • Main Discovery: Researchers identified a rare genetic mutation, C182F, within the TAAR1 brain receptor that completely negates the efficacy of newer schizophrenia treatments by structurally locking the receptor in an inactive state.
  • Methodology: The study employed advanced cell biology assays and 500-nanosecond molecular dynamics simulations to analyze the variant, which was originally isolated from an Indian family with a history of schizophrenia.
  • Key Data: In the homozygous state, the mutation caused a complete loss of receptor signaling function and reduced protein surface expression by approximately 40%, while heterozygous cells retained only about 50% activity.
  • Significance: This discovery explains the clinical failure of promising TAAR1 agonists like ulotaront in certain patients, revealing that the mutation eliminates the critical disulfide bond "tent pole" needed for the drug to bind effectively.
  • Future Application: Standard psychiatric care may evolve to include mandatory genetic screening for TAAR1 variants prior to prescribing specific antipsychotics to ensure alignment with the patient's pharmacogenomic profile.
  • Branch of Science: Pharmacogenomics and Molecular Psychiatry.
  • Additional Detail: While rare globally, the C182F mutation occurs more frequently in South Asian populations, highlighting a specific demographic necessity for targeted genetic testing in drug development.

Sunday, February 1, 2026

Bioinformatics: In-Depth Description


Bioinformatics is an interdisciplinary field that develops methods and software tools for understanding biological data, particularly when the data sets are large and complex. It combines biology, computer science, information engineering, mathematics, and statistics to analyze and interpret the vast amounts of biological information generated by modern research technologies.

Friday, January 30, 2026

Using AI to Retrace the Evolution of Genetic Control Elements in the Brain

By decoding the DNA control elements that shape cerebellum development, artificial intelligence helps advancing our understanding of how the human brain evolved.
Image Credit: © Mari Sepp

Scientific Frontline: Extended "At a Glance" Summary

The Core Concept: A methodology utilizing advanced artificial intelligence to decode and predict the activity of genetic control elements in the developing mammalian cerebellum based on DNA sequences.

Key Distinction/Mechanism: Unlike traditional methods hindered by rapid evolutionary turnover, this approach employs machine learning models trained on comprehensive single-cell sequencing data from six mammalian species (human, bonobo, macaque, marmoset, mouse, and opossum) to predict regulatory activity directly from sequence grammar.

Major Frameworks/Components:

  • Deep Learning Models: AI algorithms trained to predict genetic control element activity solely from DNA sequences.
  • Single-Cell Sequencing: Mapping of element activity in individual cells across developing cerebellums of six diverse mammalian species.
  • In Silico Prediction: Application of trained models to predict activity across 240 mammalian species to reconstruct evolutionary histories.
  • Sequence Grammar Decoding: Identification of conserved rules defining control element function across species.

Branch of Science: Evolutionary Biology, Computational Biology, Genomics, and Neuroscience.

Future Application: Identification of human-specific genetic innovations involved in brain expansion and cognition, and potential insights into neurodevelopmental disorders by understanding regulatory gene repurposing.

Why It Matters: This research overcomes significant barriers in tracing brain evolution, revealing how specific genetic changes—such as the repurposing of the THRB gene—contributed to the expansion of the human cerebellum, a region critical for cognition and language.

Thursday, January 29, 2026

Ancient DNA reveals 12,000-year-old case of rare genetic disease

Daniel Fernandes preparing to take a sample
Photo Credit: ©Adrian Daly

Scientific Frontline: Extended "At a Glance" Summary

The Core Concept: Researchers have successfully performed the earliest known genetic diagnosis in humans, identifying a rare inherited growth disorder called acromesomelic dysplasia in a 12,000-year-old skeleton found in Italy.

Key Distinction/Mechanism: While traditional archaeology often relies on skeletal measurements to infer health conditions, this study utilized ancient DNA (aDNA) sequencing to pinpoint specific mutations. By extracting DNA from the petrous part of the temporal bone, scientists identified a homozygous mutation in the NPR2 gene responsible for the severe short stature in the daughter, and a heterozygous mutation in the mother, which caused a milder form of the condition.

Origin/History: The skeletal remains were originally excavated in 1963 at the Grotta del Romito in southern Italy and date back to the Upper Paleolithic period (over 12,000 years ago).

Major Frameworks/Components:

  • Ancient DNA (aDNA) Analysis: Extraction and sequencing of genetic material from prehistoric bone samples.
  • Targeted Gene Screening: Focusing specifically on genes known to influence skeletal growth, such as NPR2.
  • Comparative Clinical Genetics: Cross-referencing ancient genetic variants with modern medical databases to confirm diagnoses.

Branch of Science: Paleogenomics, Clinical Genetics, Evolutionary Anthropology, and Physical Anthropology.

Future Application: This methodology paves the way for reconstructing the medical history of ancient populations, diagnosing other rare diseases in the archaeological record, and understanding the evolutionary timeline of specific genetic mutations.

Why It Matters: This discovery proves that rare genetic diseases are not exclusively modern phenomena but have persisted throughout human history. Furthermore, the survival of the severely disabled individual into adulthood provides profound evidence of social care and community support in prehistoric hunter-gatherer societies.

Wednesday, January 28, 2026

How genes influence the microbes in our mouths

Illustration Credit: Agnieszka Grosso

Scientific Frontline: "At a Glance" Summary

  • Main Discovery: Scientists identified 11 specific regions of the human genome that significantly influence the composition and abundance of oral microbial communities, confirming that host genetics play a critical role in determining the mouth's bacterial environment.
  • Methodology: Researchers analyzed whole-genome sequences derived from saliva samples of over 12,500 individuals, repurposing the data to simultaneously measure human genetic markers and the abundance of 439 common microbial species.
  • Key Data: The study found that the FUT2 gene variant affected the levels of 58 oral bacterial species, while variations in the AMY1 gene influenced the abundance of more than 40 species.
  • Significance: This research establishes a direct biological link between human genetics and oral health, suggesting that genetic factors can predispose individuals to cavities and tooth loss by altering the oral microbiome, independent of dental hygiene habits.
  • Future Application: The statistical methods and findings developed in this study lay the groundwork for personalized dental care strategies and further large-scale investigations into how human genetics shape microbiomes throughout the body.
  • Branch of Science: Genomics, Microbiology, and Oral Biology
  • Additional Detail: Individuals with higher copy numbers of the AMY1 gene, which encodes a starch-digesting enzyme, showed increased populations of sugar-feeding bacteria and a statistically significant correlation with higher rates of denture use.

Sunday, January 25, 2026

Fossils show giant prehistoric kangaroos could still hop

Sthenurine skeleton in the South Australian Museum. 
Photo Credit: Megan Jones

Scientific Frontline: "At a Glance" Summary

  • Main Discovery: Fossil analysis reveals that giant prehistoric kangaroos weighing over 200kg retained the physiological capacity for hopping, challenging previous biomechanical theories that suggested a 150kg limit for saltatorial locomotion.
  • Methodology: Researchers from the Universities of Manchester, Bristol, and Melbourne combined anatomical measurements from extant kangaroos with direct fossil evidence, specifically analyzing foot bone strength and the surface area of the heel bone for tendon anchorage.
  • Key Data: The study analyzed species reaching masses of up to 250kg—nearly three times the weight of the 90kg modern red kangaroo—identifying shorter, thicker foot bones and broad heel bones adapted to support significantly larger ankle tendons.
  • Significance: The findings overturn the "scaling-up" model of modern anatomy, proving that extinct giants were built with distinct structural adaptations that allowed them to manage enormous landing forces, though with reduced elastic energy efficiency compared to modern relatives.
  • Future Application: This biomechanical framework provides a new foundation for reconstructing the locomotion of other extinct megafauna, moving beyond simple isometric scaling to understand how prehistoric animals navigated diverse ecological niches.
  • Branch of Science: Paleontology, Evolutionary Biology, and Biomechanics.
  • Additional Detail: Evidence suggests these giants utilized a "movement repertoire" that included slow, short-burst hopping for rough terrain or escaping danger, supplemented by bipedal walking or quadrupedal movement.

Saturday, January 24, 2026

AI generates short DNA sequences that show promise for gene therapies

Scientists are training AI models to recognize and write pieces of human DNA that control gene expression, in hopes that one day these synthetic sequences can improve genetic medicine.
Image Credit: Scientific Frontline / AI generated (Gemini)

Scientific Frontline: Extended "At a Glance" Summary

  • The Core Concept: A generative AI model designed to create synthetic DNA sequences, specifically cis-regulatory elements (CREs), that can precisely control gene activity within targeted cell types.
  • Key Distinction/Mechanism: Unlike traditional methods that modify existing DNA by removing or inserting segments, this model generates entirely new, functional sequences from scratch. It adapts diffusion model technology—similar to that used in image generators like DALL-E—to analyze chromatin accessibility data and write novel genetic "instructions."
  • Origin/History: Developed by scientists at the Broad Institute and Mass General Brigham; the study was published in Nature Genetics in December 2025, with further details released in January 2026.
  • Major Frameworks/Components:
    • Diffusion Models: The generative AI architecture used to create the sequences.
    • Cis-Regulatory Elements (CREs): The short DNA segments targeted for generation, responsible for tuning gene expression.
    • Chromatin Accessibility Data: The training dataset used to teach the model which regulatory elements are active in specific cells.
    • AXIN2: A protective gene used as a proof-of-concept target to demonstrate the model's ability to reactivate suppressed genes in leukemia cells.
  • Branch of Science:
    • Computational Biology / Bioinformatics
    • Artificial Intelligence (Generative AI)
    • Genetics and Genomics
  • Future Application: The technology aims to enhance gene therapies by creating synthetic regulatory elements that ensure treatments are active only in the correct tissues. Future uses could involve pairing these sequences with delivery vectors like adeno-associated viruses (AAVs) or genome editors.
  • Why It Matters: This advancement moves beyond merely editing the genome to "writing" it, enabling the design of highly specific, potent genetic switches. This could lead to more effective treatments for complex diseases like cancer by ensuring therapeutic genes are turned on more effectively than their natural counterparts would allow.

Thursday, January 22, 2026

Meet the marten: Oregon State research provides updated look at rare, adorable carnivore

Humboldt marten.
Photo Credit: Ben Wymer, A Woods Walk Photography

Scientific Frontline: "At a Glance" Summary

  • Main Discovery: Genetic analysis confirmed the presence of 46 individual coastal martens within a 150-square-mile Northern California study area, establishing their habitation of both high-elevation forested ridgetops and lower-elevation riparian ravines.
  • Methodology: Researchers deployed non-invasive survey tools, including 285 PVC pipe hair snares for DNA collection and 135 remote cameras, across ancestral Yurok and Karuk lands to accurately map distribution and demography.
  • Key Data: The study identified 28 males and 18 females, revealing a specific preference for forest stands exhibiting greater than 50% canopy cover and complex structures like large-diameter trees, snags, and hollow logs.
  • Significance: This research provides essential baseline estimates for the Humboldt marten, a species listed as threatened under the Endangered Species Act that was considered extinct until its rediscovery in 1996.
  • Future Application: Findings will directly guide land management decisions for the Yurok Tribe and U.S. Forest Service, helping to prioritize the conservation of old-growth forest characteristics against threats like wildfire and climate change.
  • Branch of Science: Wildlife Ecology and Conservation Biology
  • Additional Detail: The study highlights the resilience of the species in a mixed-use landscape involving timber harvesting and cattle grazing, emphasizing the need to mitigate modern risks such as rodenticides and vehicle strikes.

Saturday, January 3, 2026

Canine Ocular Melanosis

Pathophysiology, genomic architecture, clinical progression, and therapeutic management of canine ocular melanosis
Image Credit: Scientific Frontline

In the discipline of veterinary ophthalmology, few conditions present as complex a challenge as Canine Ocular Melanosis (OM). Predominantly affecting the Cairn Terrier, yet not exclusive to this breed. This hereditary disorder is characterized by a relentless, progressive infiltration of pigmented cells within the ocular tissues, leading to severe morbidity through the development of intractable secondary glaucoma. Historically and colloquially referred to as "pigmentary glaucoma," this terminology has largely been abandoned in the academic literature in favor of "ocular melanosis" to more accurately reflect the underlying pathological process: a primary proliferation and migration of melanocytes, rather than a passive dispersion of pigment granules as seen in human pigmentary glaucoma. The disease represents a significant welfare concern due to the chronic pain associated with ocular hypertension and the eventual, often bilateral, loss of vision. Furthermore, its entrenched status within the Cairn Terrier gene pool, driven by an autosomal dominant mode of inheritance and a late age of onset, poses a profound dilemma for breeders and geneticists alike.  

Monday, April 24, 2023

Researchers Identify a New Genetic Culprit in Canine Bladder Cancers

Photo Credit: Lucie Helešicová

Researchers have identified new genetic mutations linked to a subset of canine bladder cancers. Their findings have implications both for early cancer detection and for targeted treatments in dogs and humans.

Previous research showed that 85% of canine urothelial carcinomas (a type of bladder cancer) share a specific mutation in a gene named BRAF. This mutation (known as V595E) is caused by an error in BRAF’s genetic code, where a normal ‘T’ nucleotide in the DNA sequence is substituted by an ‘A’. The BRAF V595E mutation results in abnormal activation of a genetic signaling pathway called MAPK, leading to uncontrolled cellular growth, or proliferation.

“Essentially, BRAF V595E generates an abnormal protein that instructs the cells to keep dividing, forming a tumor. So, if this single nucleotide substitution in the BRAF gene is detected in 85% of all canine urothelial carcinomas, why is it not in all of them?” asks Matthew Breen, Oscar J. Fletcher Distinguished Professor of Comparative Oncology Genetics at North Carolina State University and corresponding author of the research. “Pathologists see no difference between those cancers with this mutation and those without, so what’s going on with that other 15%?”

Monday, April 17, 2023

New genetic target for male contraception identified

Photo Credit: Filipe Almeida

Discovery of a gene in multiple mammalian species could pave the way for a highly effective, reversible and non-hormonal male contraceptive for humans and animals.

Washington State University researchers identified expression of the gene, Arrdc5, in the testicular tissue of mice, pigs, cattle and humans. When they knocked out the gene in mice, it created infertility only in the males, impacting their sperm count, movement and shape. The researchers detailed their findings in the journal Nature Communications.

“The study identifies this gene for the first time as being expressed only in testicular tissue, nowhere else in the body, and it’s expressed by multiple mammalian species,” said Jon Oatley, senior author and professor in WSU’s School of Molecular Biosciences. “When this gene is inactivated or inhibited in males, they make sperm that cannot fertilize an egg, and that’s a prime target for male contraceptive development.”

While other molecular targets have been identified for potential male contraceptive development, the Arrdc5 gene is specific to the male testes and found in multiple species. Importantly, lack of the gene also causes significant infertility creating a condition called oligoasthenoteratospermia or OAT. This condition, the most common diagnosis for human male infertility, shows a decrease in the amount of sperm produced, slowed mobility and distorted shape so that the sperm are unable to fuse with an egg.

Wednesday, February 15, 2023

Genetic test can detect deadly bleeding disorder in dogs

Jenna, a Scottish deerhound owned by Laura Studer, has a DNA sample taken from her in Gig Harbor.
 Photos Credit: WSU College of Veterinary Medicine/Ted S. Warren.

A new genetic test can identify dogs at risk of a potentially deadly disorder resulting in excessive bleeding and bruising in the hours and days following surgical procedures.

A team led by Washington State University researchers developed the DEPOHGEN (TM) test following a study in which they examined Scottish deerhounds and identified a gene associated with the condition known as delayed postoperative hemorrhage or DEPOH. Animals with a mutation in the DEPOH gene are significantly more likely to experience the condition. The study was published in the Journal of Veterinary Internal Medicine.

“Dogs with the DEPOH mutation have a much higher risk than other dogs of developing this after undergoing surgery,” said Dr. Michael Court, the study’s corresponding author. “The DEPOHGEN test will allow us to prevent delayed postoperative hemorrhage by administering antifibrinolytic drugs to dogs that test positive for the gene before any surgery.”

Delayed postoperative hemorrhage was first recorded in greyhounds, but it has also been noted in other sighthound breeds, like Scottish deerhounds and Irish wolfhounds. Following the identification of the DEPOH gene, the team examined samples from WSU’s pet DNA bank and discovered the mutation in additional sighthounds, like Italian greyhounds and salukis, as well as in some other popular breeds, such as golden retrievers and border collies.

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