Studi menemukan sifat epigenetik melanggar hukum genetika Mendel

Sebuah studi pada tikus yang didanai pemerintah federal telah mengungkapkan bahwa beberapa sifat yang diwariskan mengikuti pola non-Mendel melalui perubahan epigenetik. Penelitian ini mengidentifikasi ratusan peristiwa metilasi DNA yang tidak terduga lintas generasi. Penelitian ini juga mendokumentasikan paramutasi alami pertama yang diketahui pada mamalia.

Para peneliti di Johns Hopkins University dan Texas A&M University melacak metilasi DNA pada tiga generasi tikus. Mereka meneliti 12 pola pewarisan yang diketahui dan menemukan bahwa sekitar 7 persen tidak mengikuti aturan klasik Mendel. Di antaranya terdapat 54 kasus di mana metilasi muncul pada keturunan tanpa ada pada kedua induknya.

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Microscopic illustration of migrating neurons in the developing brain showing DNA damage and repair.
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Developing neurons sustain and rapidly repair DNA double-strand breaks during migration, study finds

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A study in Nature reports that newborn neurons can incur double-strand DNA breaks while squeezing through tight spaces in the developing brain, and that healthy cells typically repair most of this damage within about a day.

A study involving infants in Hong Kong found that DNA methylation patterns measured at birth were associated with how the gut microbiome developed during the first year of life, and that certain combinations were linked to autism- and ADHD-related behavioral signs at 36 months.

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Researchers in New York have tested an improved gene-editing method on healthy human embryos donated for research. The study shows mixed success in making precise DNA changes while avoiding some unintended mutations.

A new theory from scientists at Cold Spring Harbor Laboratory suggests that brain cells use their cellular family tree to organize into a complex organ. The model explains how a single starting cell can form a brain with roughly 170 billion precisely positioned neurons.

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Researchers have identified a rare genetic mutation that may help people from long-lived families stay healthier longer by reducing harmful inflammation. The findings were presented at the European Society of Human Genetics conference in Gothenburg.

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