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Mutation associated with premature ovarian failure identified

A new study identifies a specific mutation in the MCM8 gene as a cause of premature ovarian failure. The mutation leads to chromosomal instability and DNA repair problems, affecting women's reproductive health. Researchers found that siblings without the mutation did not experience similar symptoms.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateDec 1, 2014

Still no 'justice for all' for female athletes

A study review by María José Martínez-Patiño and others highlights the need for refined policies to protect female athletes from media attention and sex tests. The International Olympic Committee's hyperandrogenism policy is being called into question, with experts advocating for greater equity and inclusivity in sports.

SourceSpringer·JournalArchives of Sexual Behavior·DateAug 4, 2014

Where DNA's copy machine pauses, cancer could be next

Researchers at Duke University mapped fragile sites across the entire yeast genome, finding they occur in areas where DNA replication slows or stalls. These sites are linked to genetic abnormalities seen in solid tumors and can lead to chromosome instability.

SourceDuke University·JournalProceedings of the National Academy of Sciences·DateMay 5, 2014

Cancer 'avalanche effect' refuted

A research group at Lund University has shown that the 'avalanche effect' theory of cancer development is not correct. Cancer cells can have over 100 chromosomes, but a single initial change does not lead to unstoppable further mutations.

SourceLund University·JournalProceedings of the National Academy of Sciences·DateDec 11, 2013

Life, but not as we know it

Researchers at the University of Nottingham have found a type of archaea that can reproduce without normal replication processes, growing faster in its absence. This discovery challenges existing understanding of DNA replication and has implications for cancer research.

SourceUniversity of Nottingham·JournalNature·DateNov 3, 2013

Genetic evidence shows recent population mixture in India

A new study published in American Journal of Human Genetics suggests that modern-day India is the result of recent population mixture among divergent demographic groups. The findings provide evidence for a genetic mixture of two ancestral groups: Ancestral North Indians and Ancestral South Indians, which occurred around 1,900 to 4,200 ...

SourceHarvard Medical School·JournalAmerican Journal of Human Genetics·DateAug 8, 2013

Genetic factor predicts success of weight-loss surgery

A genome-wide association study reveals that a DNA sequence variation on chromosome 15 can predict weight loss after gastric bypass surgery. Individuals with this variant tend to lose more weight than those without it. The findings may lead to new approaches for developing therapies for obesity and related metabolic disorders.

SourceCell Press·JournalAmerican Journal of Human Genetics·DateMay 2, 2013

The cell that isn't

Researchers have developed a new technique to study cell division without a cell membrane, allowing them to uncover physical forces and constraints involved in the process. By using this method, they discovered that squeezing the 'cell' into tighter quarters does not lead to smaller spindles, contradicting previous assumptions.

SourceEuropean Molecular Biology Laboratory·JournalNature Protocols·DateJan 18, 2013

Solving puzzles without a picture

A team of genome and computer scientists developed an algorithm that can rapidly create virtual chromosomes using NGS data. The new RACA (Reference-Assisted Chromosome Assembly) algorithm performs even better with longer DNA reads, addressing the challenge of assembling complete chromosomes from short NGS fragments.

SourceUniversity of California - Davis·JournalProceedings of the National Academy of Sciences·DateJan 10, 2013

Orangutans harbor ancient primate Alu

Researchers have identified an ancestral Alu element in orangutan genomes, which has uniquely multiplied within the species. This discovery provides insights into primate evolution and diversity, with implications for understanding speciation processes.

SourceBMC (BioMed Central)·JournalMobile DNA·DateApr 29, 2012

University of Toronto biologists predict extinction for organisms with poor quality genes

Biologists at the University of Toronto found that individuals with low-quality genes can produce offspring with even more inferior chromosomes, possibly leading to extinction. The study suggests that this could result in a 'mutational meltdown' that devastates endangered populations and increases health problems.

SourceUniversity of Toronto·JournalProceedings of the National Academy of Sciences·DateApr 16, 2012

Sex, tools and chromosomes

Researchers at UC Davis have discovered a crucial enzyme system that regulates chromosome pairing during meiosis, ensuring precise genome sorting and development of healthy sperm and eggs. The discovery could lead to insights into fertility, miscarriages, cancer, and developmental disorders.

Fishing games gone wrong

Researchers found that microtubules, which act like 'fishing lines,' often incorrectly hook onto chromosomes, resulting in 90% of chromosomes getting connected in the wrong way. This error-prone process can lead to female infertility and miscarriages due to incorrect chromosome separation.

Cancer in a single catastrophe

Researchers have discovered that cancer can arise rapidly after a single catastrophic event involving tens to hundreds of genomic rearrangements. This phenomenon, known as chromothripsis, is seen in at least two percent of all cancers and up to 25 percent of bone cancers.

SourceCell Press·JournalCell·DateJan 6, 2011

Discovery opens door to therapeutic development for FSH muscular dystrophy

A recent study has revealed a model for understanding Facioscapulohumeral Muscular Dystrophy (FSHD), which is linked to the generation of toxic RNA that damages muscle cells. Variations in chromosome 4 play a crucial role in this process, and researchers have identified potential new treatments by silencing the effects of this RNA.

Worm genes KO'd

Researchers at the University of Utah have developed a procedure to delete specific genes from nematode worms, allowing them to infer the function of each gene and thereby understand human gene regulation. The technique, called MosDel, uses a transposon to cut out genes and exploit cell DNA repair mechanisms.

SourceUniversity of Utah·JournalNature Methods·DateApr 25, 2010