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No detectada	desde mar. 1997 / hasta dic. 2023	Science Journals

Información

Tipo de recurso:

revistas

ISSN impreso

0036-8075

ISSN electrónico

1095-9203

Editor responsable

American Association for the Advancement of Science (AAAS)

País de edición

Estados Unidos

Fecha de publicación

1880-

Cobertura temática

Ciencias naturales

Tabla de contenidos

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doi: 10.1126/science.aaz8528

Cell type–specific genetic regulation of gene expression across human tissues

Sarah Kim-Hellmuth; François Aguet; Meritxell Oliva; Manuel Muñoz-Aguirre; Silva Kasela; Valentin Wucher; Stephane E. Castel; Andrew R. Hamel; Ana Viñuela; Amy L. Roberts; Serghei Mangul; Xiaoquan Wen; Gao Wang; Alvaro N. Barbeira; Diego Garrido-Martín; Brian B. Nadel; Yuxin Zou; Rodrigo Bonazzola; Jie Quan; Andrew Brown; Angel Martinez-Perez; José Manuel Soria; Gad Getz; Emmanouil T. Dermitzakis; Kerrin S. Small; Matthew Stephens; Hualin S. Xi; Hae Kyung Im; Roderic Guigó; Ayellet V. Segrè; Barbara E. Stranger; Kristin G. Ardlie; Tuuli Lappalainen;

<jats:p>The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type–interaction QTLs for seven cell types and show that cell type–interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type–interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.</jats:p>

Palabras clave: Multidisciplinary.

Pp. eaaz8528

doi: 10.1126/science.aba3066

The impact of sex on gene expression across human tissues

Meritxell Oliva; Manuel Muñoz-Aguirre; Sarah Kim-Hellmuth; Valentin Wucher; Ariel D. H. Gewirtz; Daniel J. Cotter; Princy Parsana; Silva Kasela; Brunilda Balliu; Ana Viñuela; Stephane E. Castel; Pejman Mohammadi; François Aguet; Yuxin Zou; Ekaterina A. Khramtsova; Andrew D. Skol; Diego Garrido-Martín; Ferran Reverter; Andrew Brown; Patrick Evans; Eric R. Gamazon; Anthony Payne; Rodrigo Bonazzola; Alvaro N. Barbeira; Andrew R. Hamel; Angel Martinez-Perez; José Manuel Soria; Brandon L. Pierce; Matthew Stephens; Eleazar Eskin; Emmanouil T. Dermitzakis; Ayellet V. Segrè; Hae Kyung Im; Barbara E. Engelhardt; Kristin G. Ardlie; Stephen B. Montgomery; Alexis J. Battle; Tuuli Lappalainen; Roderic Guigó; Barbara E. Stranger;

<jats:p>Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.</jats:p>

Palabras clave: Multidisciplinary.

Pp. eaba3066

doi: 10.1126/science.abc0502

Comment on “No consistent ENSO response to volcanic forcing over the last millennium”

Alan Robock

<jats:p>Dee <jats:italic>et al</jats:italic>. (Reports, 27 March 2020, p. 1477) claimed that large volcanic eruptions do not produce a detectable El Niño response. However, they come to the wrong conclusion because they have ignored the fundamental climate response to large volcanic eruptions: Volcanic eruptions cool the surface, thus masking the relative El Niño warming.</jats:p>

Palabras clave: Multidisciplinary.

Pp. eabc0502

doi: 10.1126/science.abc1733

Response to Comment on “No consistent ENSO response to volcanic forcing over the last millennium”

Sylvia G. Dee; Kim M. Cobb; Julien Emile-Geay; Toby R. Ault; R. Lawrence Edwards; Hai Cheng; Christopher D. Charles

<jats:p>Robock claims that our analysis fails to acknowledge that pan-tropical surface cooling caused by large volcanic eruptions may mask El Niño warming at our central Pacific site, potentially obscuring a volcano–El Niño connection suggested in previous studies. Although observational support for a dynamical response linking volcanic cooling to El Niño remains ambiguous, Robock raises some important questions about our study that we address here.</jats:p>

Palabras clave: Multidisciplinary.

Pp. eabc1733

doi: 10.1126/science.abe6517