Publications by authors named "Madeleine Heep"
In the male mouse germ line, PIWI-interacting RNAs (piRNAs), bound by the PIWI protein MIWI2 (PIWIL4), guide DNA methylation of young active transposons through SPOCD1. However, the underlying mechanisms of SPOCD1-mediated piRNA-directed transposon methylation and whether this pathway functions to protect the human germ line remain unknown. We identified loss-of-function variants in human SPOCD1 that cause defective transposon silencing and male infertility.
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- In mammals, there's a special part of the cells called the germline that helps pass traits to the next generation, but it needs to reset its DNA signals.
- In male germ cells, a protein called MIWI2 works with special RNA bits called piRNAs to help silence potentially harmful parts of the DNA known as transposable elements.
- Scientists discovered a new helper protein called SPOCD1 that is important for MIWI2 to do its job, and without it, male mice can’t have babies, but it doesn’t affect the production of piRNAs.
Site-directed RNA editing is an approach to reprogram genetic information at the RNA level. We recently introduced a novel guideRNA that allows for the recruitment of human ADAR2 to manipulate genetic information. Here, we show that the current guideRNA design is already able to recruit another human deaminase, ADAR1, in both isoforms, p110 and p150.
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