Genomic approaches to studying human-specific developmental traits.

Bibliographic Collection: 
CARTA-Inspired Publication
Publication Type: Journal Article
Authors: Franchini, LF; Pollard, KS
Year of Publication: 2015
Journal: Development
Volume: 142
Number: 18
Pagination: 3100-12
Date Published: Sep 15
Publication Language: eng
ISBN Number: 0950-1991
Accession Number: 26395139

Changes in developmental regulatory programs drive both disease and phenotypic differences among species. Linking human-specific traits to alterations in development is challenging, because we have lacked the tools to assay and manipulate regulatory networks in human and primate embryonic cells. This field was transformed by the sequencing of hundreds of genomes--human and non-human--that can be compared to discover the regulatory machinery of genes involved in human development. This approach has identified thousands of human-specific genome alterations in developmental genes and their regulatory regions. With recent advances in stem cell techniques, genome engineering, and genomics, we can now test these sequences for effects on developmental gene regulation and downstream phenotypes in human cells and tissues.

DOI: 10.1242/dev.120048