Researchers fully sequence the Y chromosome for the first time

30-Aug-2023 - What was once the final frontier of the human genome — the Y chromosome — has just been mapped out in its entirety. Led by the National Human Genome Research Institute (NHGRI), a team of researchers at the National Institute of Standards and Technology (NIST) and many other organizations used ...

Unchartered territory in the human genome

18-Jul-2022 - An international consortium brings together 7,200 segments of the human genome that are virtually unexplored and presents a roadmap for integrating them into genome databases in “Nature Biotechnology”. They could hold information about what sets humans apart from other animals. When researchers ...

Researchers generate the first complete, gapless sequence of a human genome

“The complete blueprint is going to revolutionize the way we think about human genomic variation, disease and evolution”

04-Apr-2022 - Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.According to researchers, having a complete, gap-free sequence of the roughly 3 billion bases (or “letters”) in our DNA is ...

Liver-on-a-chip, the ideal test environment for CRISPR

16-Oct-2018 - Two Arizona State University professors are among the first recipients ofSomatic Cell Genome Editing (SCGE) grants from the National Institutes of Health Common Fund. The $2,600,000, five-year grant will fund the first study of the genome editing technology CRISPR to be used on a "human liver ...

Enigmatic gene critical for a healthy brain

19-Apr-2018 - Since the human genome was first sequenced in 2001, scientists have puzzled over swathes of our DNA that despite apparently lacking function are made into ribonucleic acid (RNA) by the cell. Why make RNA at all when it is not then used to make proteins, which perform fundamental biological tasks? ...

How the most common DNA mutation happens

05-Feb-2018 - Researchers describe how two normally mismatched bases in human DNA, guanine and thymine, are able to change shape in order to form an inconspicuous rung on the helical DNA "ladder." This allows them to survive by avoiding the body's natural defenses against genetic mutations. "When these two ...

Is the Alzheimer's gene the ring leader or the sidekick?

18-Sep-2017 - The notorious genetic marker of Alzheimer's disease and other forms of dementia, ApoE4, may not be a lone wolf. Researchers from USC and the University of Manchester have found that another gene, TOMM40, complicates the picture. Although ApoE4 plays a greater role in some types of aging-related ...

Long, mysterious strips of RNA contribute to low sperm count

29-Aug-2017 - "Infertility affects 10 to 15 percent of couples in the United States, with the vast majority of cases due to unknown causes. Approximately 40 percent of these cases are due to male infertility," said senior author Khalil. Khalil and colleagues have been working to understand genetic mechanisms ...

Small RNA fragments defend the genome when it's 'naked'

03-Jul-2017 - Our genomes are minefields, studded with potentially damaging DNA sequences over which hundreds of thousands of sentries stand guard. These sentries, called epigenetic marks, attach to the double helix at such spots and prevent the underlying DNA sequences from springing into destructive ...

Research on crucial cutting enzyme maps sites of DNA damage in leukemias and other cancers

16-Jun-2017 - Researchers studying a DNA-cutting enzyme with a crucial role in regulating the structure of genes have discovered a broad role for its cutting activity in driving abnormal genetic rearrangements called translocations that cause cancer, including leukemias and solid tumors. The enzyme, type II ...