NIH researchers reveal new insights on how genetic architecture determines gene expression, tissue-specific function, and disease phenotype in blinding diseases.

National Eye Institute (NEI) scientists have mapped the organization of human retinal cell chromatin. These are the fibers that package 3 billion nucleotide-long DNA

DNA, or deoxyribonucleic acid, is a molecule composed of two long strands of nucleotides that coil around each other to form a double helix. It is the hereditary material in humans and almost all other organisms that carries genetic instructions for development, functioning, growth, and reproduction. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).

Changing the epigenetic marks on chromosomes results in altered gene expression in offspring and in grandoffspring, demonstrating ‘transgenerational epigenetic inheritance.’

Without changing the genetic code in the DNA

DNA, or deoxyribonucleic acid, is a molecule composed of two long strands of nucleotides that coil around each other to form a double helix. It is the hereditary material in humans and almost all other organisms that carries genetic instructions for development, functioning, growth, and reproduction. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).

Understanding how metastasis works.

In the universal fight against cancer, metastasis is one of the most unpleasant factors that could make matters even worse; and there is still much to comprehend in the spread process. Cambridge scientists might have unveiled a breakthrough in understanding how metastasis works.

The research has been published in the journal Nature Genetics.

Chawalit Banpot/iStock.

A team of scientists at the Cancer Research UK Cambridge Institute and the University of Cambridge has discovered that blocking a particular protein’s activity kicked off metastasis in mice with cancer.

A new study from the Garvan Institute of Medical Research shows how rises in core body temperature may trigger the inflammatory flares in people with a rare genetic autoinflammatory disease.

The recessive disorder, called mevalonate kinase deficiency (MKD), is caused by mutations in the gene for mevalonate kinase, an essential enzyme present in all cells in the body. Lack of this enzyme leads to a build-up of abnormal proteins, which causes cells of the immune system to malfunction and trigger inflammation.

The condition usually appears in early childhood, and patients experience regular episodes of high fever and skin rashes, ulcers, swollen lymph nodes and abdominal pain. Very severe disease also causes neurological and developmental problems and can be fatal.

BGI Genomics, in collaboration with Southwest University, the State Key Laboratory of Silkworm Genome Biology, and other partners, has constructed a high-resolution pangenome dataset representing almost the entire genomic content in a silkworm.

This research paper, providing genetic insights into artificial selection (domestication and breeding) and ecological adaptation, was published on September 24 in Nature Communications.

Previously, due to the scarcity of wild silkworms and technical limitations of former studies, many trait-associated sites were missing. This is the first research ever to digitize silkworm gene pool and create a “digital silkworm”, greatly facilitating functional genomic research, promoting precise breeding, and thus enabling additional silk use cases.