Tag Archives: nature genetics

Ancient Lamprey DNA Decoded

When it comes to evolution, humans can learn a thing or two from primeval sea lampreys.

In the current issue of Nature Genetics, a team of scientists has presented an assembly of the sea lamprey genome – the first time the entire sequence has been decoded. The data is compelling as the sea lamprey is one of the few ancient, jawless species that has survived through the modern era.

The paper not only sheds light on how the venerable invasive species adapted and thrived, but it also provides many insights into the evolution of all vertebrates, species with backbones and spinal cords, which includes humans, said Weiming Li, Michigan State University fisheries and wildlife professor, who organized and coordinated the team. (more…)

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Gene Mutations Cause Massive Brain Asymmetry

Discovery could help lead to prevention of radical surgery for rare childhood disease

Hemimegalencephaly is a rare but dramatic condition of infancy in which half the brain is malformed and much larger than the other half. Its cause is unknown, but the current treatment is radical: the surgical disconnection and removal of the diseased half of the brain.

In a paper published in the June 24 online issue of the journal Nature Genetics, a team of doctors and scientists says mutations in a trio of genes that help regulate cell size and proliferation are likely culprits in causing the disorder, though perhaps not the only ones.

These mutations, known as de novo somatic mutations, are genetic changes in the cells of the brain. Because they are in non-sex organs, the mutations are not transmitted to the child by either parent. (more…)

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Disease that Stunts Infants’ Growth Traced to Same Gene that Makes Kids Grow too Fast

Discovery ends UCLA scientist’s 20-year quest for cause of IMAGe syndrome

The Caterpillar got down off the mushroom … remarking as it went, ‘One side will make you grow taller, and the other side will make you grow shorter.’

—Lewis Carroll, “Alice’s Adventures in Wonderland”

UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants’ growth. The twist? The mutation occurs on the same gene that causes Beckwith–Wiedemann syndrome, which makes cells grow too fast, leading to very large children.

Published in the May 27 edition of the journal Nature Genetics, the UCLA findings could lead to new ways of blocking the rapid cell division that allows tumors to grow unchecked. The discovery also offers a new tool for diagnosing children with IMAGe syndrome, which until now has been difficult to identify accurately. (more…)

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New Genetic Clues for Schizophrenia

De novo mutations – genetic errors that are present in patients but not in their parents – are more frequent in schizophrenic patients than in normal individuals, according to an international group of scientists led by Dr. Guy A. Rouleau of the University of Montreal and CHU Sainte-Justine Hospital. The discovery, published today in Nature Genetics, may enable researchers to define how the disease results from these mutations and eventually develop new treatments for it.

(more…)

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