title: Genomic approaches to studying human-specific developmental traits.
abstract: 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.
authors.affiliation: Instituto de Investigaciones en Ingeniería Genética y Biología Molecular (INGEBI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires C1428, Argentina franchini@dna.uba.ar katherine.pollard@gladstone.ucsf.edu.
authors.forename: Lucía F
authors.initials: LF
authors.lastname: Franchini
authors.affiliation: Gladstone Institutes, San Francisco, CA 94158, USA Institute for Human Genetics, Department of Epidemiology & Biostatistics, University of California, San Francisco, CA 94158, USA franchini@dna.uba.ar katherine.pollard@gladstone.ucsf.edu.
authors.forename: Katherine S
authors.initials: KS
authors.lastname: Pollard
mesh_terms: D018507:Gene Expression Regulation, Developmental / Q000502:physiology*; D053263:Gene Regulatory Networks / Q000235:genetics / Q000502:physiology*; D015894:Genome, Human / Q000235:genetics*; D006803:Human Development / Q000502:physiology*; D006801:Humans; D030781:Organisms, Genetically Modified / Q000235:genetics / Q000502:physiology*; D010641:Phenotype
keywords: Chimpanzee; Embryonic cells; Evolution; Genomes; Phenotypic