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Category: genetics – Page 177

A new ape from Türkiye and the radiation of late Miocene hominines

The origin of the hominines is among the most hotly debated topics in paleoanthropology. The traditional view, ever since Darwin, holds that hominines and hominins originate in Africa, where the earliest hominins are found and where all extant non-human hominines live. More recently a European origin has been proposed, based on the phylogenetic analysis of late Miocene apes from Europe and Central Anatolia1,2,3 The fossils described here attest to a lengthy history of hominines in Europe, with multiple taxa in the eastern Mediterranean known for at least 2.3 Ma4,5,6,7 Our phylogenetic analysis, based on the new specimens described here and a large sample of other fossil and extant hominoids (Supplementary Note 1, Tables 1, 2), supports previous research confirming the hominine status of the eastern Mediterranean apes2,3,8,9,10,11,12,13,14,15,16,17,18,19,20 Our most parsimonious phylogenetic results suggest that hominines in the eastern Mediterranean evolved from dryopithecins in central and western Europe, though there are alternative interpretations21,22,23,24. Either way, the oldest known hominines are European. They may have dispersed into Europe from ancestors in Africa, only to become extinct22 However, the more likely and more parsimonious interpretation is that hominines evolved over a lengthy period in Europe and dispersed into Africa before 7 Ma.

For some time, the only known late Miocene ape from Anatolia was Ankarapithecus, which is alternatively described as a stem hominid or a pongine25,26,27, but not a hominine. It is easily distinguished from Our anopithecus and Graecopithecus from Greece and Bulgaria25,26,27 In 2007, a new species of Our anopithecus was described from Çorakyerler in central Anatolia28. Since then, thousands of vertebrate fossils have been recovered at Çorakyerler, including a well-preserved ape partial cranium29 (Fig. 1) The O. turkae holotype, a fragmented palate, was originally distinguished from O. macedoniensis in its shorter premaxilla, narrower palate, morphologically similar (homomorphic) upper premolars (as opposed to P3 being more triangular than P4), smaller male canines and possibly larger size28. However, recovery of the new cranium and our reanalysis of the published material requires a reassessment of this conclusion and justifies the naming of a new genus of Miocene hominine.

‘New’ ALS gene destabilizes neuron’s structure and chokes off its nucleus

The viral ALS Ice Bucket Challenge a few years ago raised major funding that resulted in the discovery of new genes connected to the disease. One of those genes is NEK1, in which mutations have been linked to as much as 2% of all ALS cases, making it one of the top-known causes of the disease.

But it wasn’t known how the mutated gene disrupts the function of the motor neuron and causes it to degenerate and die.

Northwestern Medicine scientists have discovered for the first time how this mutated gene leads to ALS (amyotrophic lateral sclerosis).

Epilepsy Patients may have elevated Risk of Cardiac Arrhythmias

A recent study found increased cardiac arrhythmia risk to stay long term in individuals with epilepsy, specially in people who use carbamazepine and valproic acid. The findings of the study were published in European Heart Journal.

Using UK Biobank data, the research also explores the potential roles of genetics and antiseizure medications (ASMs) in this complex relationship. Encompassing 329,432 participants, the study included 2,699 with epilepsy, was initiated between 2006 and 2010. Using advanced statistical techniques like Cox proportional hazards models and competing risk models, the researchers aimed to determine the association between epilepsy history and the incidence of cardiac arrhythmias over an extended period.

Individuals with epilepsy displayed a staggering 36% increased risk of experiencing any form of cardiac arrhythmia compared to those without the condition. This risk extended to specific arrhythmia subtypes, including atrial fibrillation, where a 26% increased risk was identified. More alarmingly, the risk of other cardiac arrhythmias was found to be 56% higher in epilepsy patients.

Screening during IVF for inherited diseases greatly reduces costs of care

For prospective parents who are carriers of many inherited diseases, using in vitro fertilization along with genetic testing would significantly lower health care expenditures, according to researchers at Stanford Medicine.

Preimplantation genetic diagnostic testing during IVF, or PGD-IVF, is being used to screen for single-gene defect conditions such as cystic fibrosis, sickle cell disease and Tay-Sachs disease, along with nearly 400 others.

The problem is that the high cost of IVF — and the lack of coverage by all but one state Medicaid program, that of New York — makes it unavailable to millions of people at risk. The majority of private employer health benefit plans also do not cover IVF.

How mRNA Could Safely Replace Blood Stem Cell Transplantation

This story is part of a series on the current progression in Regenerative Medicine. In 1999, I defined regenerative medicine as the collection of interventions that restore to normal function tissues and organs that have been damaged by disease, injured by trauma, or worn by time. I include a full spectrum of chemical, gene, and protein-based medicines, cell-based therapies, and biomechanical interventions that achieve that goal.

As part of a trio of stories on advances in stem cell gene therapy, this piece discusses how to alter blood stem cells using mRNA technology. Previous installments describe how the same platform could reinvent how we prepare patients for bone marrow transplants and correct pathogenic DNA.

At present, the only way to cure genetic blood disorders such as sickle cell anemia and thalassemia is to reset the immune system with a stem cell transplantation. Only a fraction of patients elects this procedure, as the process is fraught with significant risks, including toxicity and transplant rejection. A preclinical study published in Science explores a solution that may be less toxic yet equally effective: mRNA technology. The cell culture and mouse model experiments offer a compelling avenue for future research to enhance or replace current stem cell transplantations altogether.

Team identifies 169 genes associated with production of melanin in the skin, hair and eyes

A team of geneticists and systems biologists at Stanford University has associated 169 genes that with the production of melanin in the skin, hair and eyes. In their study, reported in the journal Science, the group conducted a flow cytometry analysis and genome-wide CRISPR screen of cell samples.

Prior research has shown that the production and distribution of melanin in the body is responsible for , and eye pigmentation. Such characteristics are important for more than appearance’s sake; skin with more melanin, for example, is better able to protect against . In this new effort, the researchers noted that while many of the genes responsible for melanin production have been identified, many more have not.

The researchers began with an effort to differentiate high and low melanin melanocytes—the cells that make melanin. They used the light-reflecting properties of melanin to sort cells in a lab dish by aiming a fluorescent lamp at them. Once they had the cells sorted, they edited them using CRISPR-Cas9. Genes were systematically mutated to switch them off and then tested to see how well the cell continued to produce melanin.

New gene-editing technique offers path to precision therapies

PNP editing is emerging as a versatile and programmable tool for site-specific DNA manipulations. An innovative genome-editing technique could enhance the delivery, specificity and targeting of gene-modifying tools for treatments.

The KAUST-developed method combines two molecular technologies: a synthetic family of DNA-like molecules known as peptide (PNAs), and a class of DNA-cutting enzymes known as prokaryotic Argonautes (pAgos).

The PNAs first unzip and slip inside the DNA helix. The pAgos, guided by short fragments of genetic material, then bind the loosened helix at specific target sequences and nick each opposing strand of DNA.

Full Y Chromosome Mapped for the First Time

Summary: Researchers successfully sequenced the entire Y chromosome, previously considered the most elusive part of the human genome.

This feat enhances DNA sequencing accuracy for this chromosome, aiding the identification of genetic disorders. Using state-of-the-art technologies, the team pieced together over 62 million letters of genetic code.

This breakthrough, in tandem with the previous reference genome T2T-CHM13, offers the first complete genome for those with a Y chromosome.

Dr. Joni L. Rutter, Ph.D. — Director, National Center for Advancing Translational Sciences — NIH

Dr. Joni L. Rutter, Ph.D., (https://ncats.nih.gov/director/bio) is the Director of the National Center for Advancing Translational Sciences (NCATS — https://ncats.nih.gov/) at the U.S. National Institutes of Health (NIH) where she oversees the planning and execution of the Center’s complex, multifaceted programs that aim to overcome scientific and operational barriers impeding the development and delivery of new treatments and other health solutions. Under her direction, NCATS supports innovative tools and strategies to make each step in the translational process more effective and efficient, thus speeding research across a range of diseases, with a particular focus on rare diseases.

By advancing the science of translation, NCATS helps turn promising research discoveries into real-world applications that improve people’s health. The NCATS Strategic Plan can be found at — https://ncats.nih.gov/strategicplan.

In her previous role as the NCATS deputy director, Dr. Rutter collaborated with colleagues from government, academia, industry and nonprofit patient organizations to establish robust interactions with NCATS programs.

Prior to joining NCATS, Dr. Rutter served as the director of scientific programs within the All of Us Research Program, where she led the scientific programmatic development and implementation efforts to build a national research cohort of at least 1 million U.S. participants to advance precision medicine. During her time at NIH, she also has led the Division of Neuroscience and Behavior at the National Institute on Drug Abuse (NIDA). In this role, she developed and coordinated research on basic and clinical neuroscience, brain and behavioral development, genetics, epigenetics, computational neuroscience, bioinformatics, and drug discovery. Dr. Rutter also coordinated the NIDA Genetics Consortium and biospecimen repository.

Throughout her career, Dr. Rutter has earned an international reputation for her diverse and unique expertise via her journal publications and speaking engagements, and she has received several scientific achievement awards, including the 2022 Rare Disease Legislative Advocates–RareVoice Award for Federal Advocacy and the 2022 FedHealthIT–Women in Leadership Impact Award.

Dr. Rutter received her Ph.D. from the Department of Pharmacology and Toxicology, Dartmouth Medical School, Hanover, New Hampshire, and completed a fellowship at NCI within the Division of Cancer Epidemiology and Genetics.

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