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This Week in Science: Feb 18, 2011

Science this week continues its celebration of the human genome's 10th anniversary with a series of essays from contributors who offer a various views of its impact. First, Maynard Olson at the University of Washington in Seattle asks what a "normal human genome" looks like. He says "there are no 'wild-type humans.'" As so-called deleterious mutations increasingly demonstrate that they "overwhelmingly make up the most abundant form of non-neutral variation in all genomes," Olson says that the model researchers commonly use explain human genetic individuality — based on deviance from "wild-type" — neglects to include that every person "[falls] short of this Platonic ideal in our own distinctive ways."

John Mattick at Australia's University of Queensland suggests in this week's Science that "the genomic foundation is shifting." More specifically, he says that "the most important outcome of the human genome project has been to expose the fallacy that most genetic information is expressed as proteins." Mattick says that human genomic complexity "has been built on a massive expansion of genomic regulatory sequences, most of which are transacted by RNAs that use generic protein infrastructure and control the epigenetic mechanisms underpinning embryogenesis and brain function."

And Eileen Hoal at South Africa's Stellenbosch University says that the shortage of genomic resources in Africa represents a "famine in the presence of the genomic data feast" elsewhere around the world. As human genomics has shown that is can be "an accelerating enabler," Hoal says that across Africa, "local initiatives need to grow local expertise and to retain the necessary talent."

Over in Science Signaling this week, a team of investigators at the Dana-Farber Cancer Institute show that STAT3, activated in human breast and other cancers, and Mucin 1, a cell surface protein over-expressed in human carcinomas, both promote cell survival and induce transformation. "We found that in breast cancer cells, the MUC1 carboxyl-terminal receptor subunit associates with the gp130–Janus-activated kinase 1–STAT3 complex. The MUC1-C cytoplasmic domain interacted directly with JAK1 and STAT3, and MUC1-C was necessary for JAK1-mediated STAT3 activation," the Dana-Farber team writes. Furthermore, the researchers found that "the MUC1-C inhibitor GO-201 blocked the MUC1-C interaction with STAT3, thereby decreasing MUC1-C and STAT3 occupancy on the MUC1 and STAT3 promoters and activation of STAT3 target genes, including MUC1 itself," which they say suggests "that MUC1-C and STAT3 function in an auto-inductive loop that may play a role in cancer cell survival."

The Scan

Study Reveals New Details About Genetics of Major Cause of Female Infertility

Researchers in Nature Medicine conducted a whole-exome sequencing study of mote than a thousand patients with premature ovarian insufficiency.

Circulating Tumor DNA Shows Potential as Biomarker in Rare Childhood Cancer

A study in the Journal of Clinical Oncology has found that circulating tumor DNA levels in rhabdomyosarcoma may serve as a biomarker for prognosis.

Study Recommends Cancer Screening for Dogs Beginning Age Seven, Depending on Breed

PetDx researchers report in PLOS One that annual cancer screening for dogs should begin by age seven.

White-Tailed Deer Harbor SARS-CoV-2 Variants No Longer Infecting Humans, Study Finds

A new study in PNAS has found that white-tailed deer could act as a reservoir of SARS-CoV-2 variants no longer found among humans.