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Science Papers Describe Fruit Fly Transcriptomic Atlas, Genetic Cause of Lymphatic Condition

Tabula Drosophilae, a single-nucleus transcriptomic atlas of the adult fruit fly Drosophila melanogaster, is published in Science this week. To build the atlas, a team led by Stanford University researchers sequenced 570,000 cells using droplet-based 10x Genomics from 15 dissected tissues, as well as whole heads and bodies and from both females and males. They also sequenced 10,000 cells from dissected tissues using the plate-based Smart-seq2 platform, which they say provides deeper coverage per cell. The resource — the first dataset within the Fly Cell Atlas Consortium — includes more than 250 distinct cell types annotated by more than 100 experts from 40 laboratories. It reports cellular signatures for each tissue, providing the entire Drosophila community a reference for studies that probe the effects of genetic perturbations and disease models at single-cell resolution, its developers write.

A study appearing in this week's Science Translational Medicine identifies a genetic cause of central conducting lymphatic anomaly (CCLA) — a condition characterized by severe lymphatic malformation — and points to a potential therapeutic avenue for treating this disorder. Researchers from the University of South Australia and elsewhere performed genome and exome sequencing on seven CCLA and identified mutations in the gene MDFIC, which encodes the MyoD family inhibitor domain containing protein. In a mouse model, MDFIC variants were found to disrupt lymphatic vessel patterning and valve development, while in vitro experiments identified how MDFIC regulates integrin activation and collective cell migration. "Our work identifies MDFIC variants underlying human lymphatic disease and reveals a crucial, previously unrecognized role for MDFIC in the lymphatic vasculature," the study's authors write. "Ultimately, understanding the genetic and mechanistic basis of CCLA will facilitate the development and implementation of new therapeutic approaches."

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