Hidden genomic duplications important in human evolution and disease.

演題

Hidden genomic duplications important in human evolution and disease.

講演者

Dr. Megan Y. Dennis (Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine)

使用言語

English

日時

2026年1月14日(水曜日) 11：00～12：00

場所

L12 meeting room

内容

 Duplicated genes expanded in the human lineage likely contributed to evolutionarily unique traits in our species, such as brain evolution. They have also sensitized certain parts of the genome to recurrent structural variation. As challenges exist in their discovery due to errors in the reference genome, systematic discovery and analysis of duplicated genes is understudied. The advent of modern sequencing technologies has recently revolutionized the field of genomics, enabling telomere-to-telomere (T2T) genome assemblies and analysis of complex genes and regions. As an example, a recent human complete T2T genome sequence uncovered over 200 million basepairs of previously hidden sequence including thousands of duplicated genes. To narrow in on genes important in human evolution, we used  diverse genetic and transcriptomic datasets to narrow in on likely functional genes important in human brain development, including many co-expressed in modules enriched for autism candidate genes. Leveraging long-read DNA sequencing of hundreds of modern humans revealed previously hidden signatures of selection. An organismal mutagenesis screen using zebrafish narrowed in on exciting new gene candidates putatively contributing to novel brain features. Beyond genes, duplications can impact chromatin interactions and cis regulation. To characterize noncoding regulatory features of human duplications, we devised a new genomic approach coupling chromatin-conformation capture (3C) with HiFi long-read sequencing (CiFi). Our holistic approach provides new insights and a comprehensive resource for studying gene expansion drivers of human evolution.

問合せ先

RNA Molecular Medicine
Katsutomo Okamura (okamurak@bs.naist.jp)