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Featured article: Genetics and functions of the retinoic acid pathway, with special emphasis on the eye

Retinoic acid (RA) is a potent morphogen required for embryonic development. RA is formed in a multistep process from vitamin A (retinol); RA acts in a paracrine fashion to shape the developing eye and is essential for normal optic vesicle and anterior segment formation. Perturbation in RA-signaling can result in severe ocular developmental diseases— including microphthalmia, anophthalmia, and coloboma. RA-signaling is also essential for embryonic development and life, as indicated by the significant consequences of mutations in genes involved in RA-signaling. The requirement of RA-signaling for normal development is further supported by the manifestation of severe pathologies in animal models of RA deficiency—such as ventral lens rotation, failure of optic cup formation, and embryonic and postnatal lethality. In this review, we summarize RA-signaling, recent advances in our understanding of this pathway in eye development, and the requirement of RA-signaling for embryonic development (e.g., organogenesis and limb bud development) and life.


HGNC updates

Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.

Previous content

Human Genomics launched with BioMed Central in July 2012, transferring from its previous publisher Henry Stewart Publications. All back content is now available in the archive.

Aims and scope

Human Genomics is a peer-reviewed, open access journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics.

Call for Papers: Public Health Genomics

Guest Editors: George P Patrinos, University of Patras, Greece; Hongyu Zhao, Yale University, USA

Papers are invited which address current issues in human public health genomics, such as genomic surveillance of disease, genetic risk prediction, individual genome interpretation, gene-environment interactions, genetic diversity of vector-borne disease, vaccination and vaccine-based approaches against pathogens data sharing, economic evaluation in genomic medicine, and the role of big data and artificial intelligence on the development of translational tools and services and the overall future of public health.

Submission Deadline: March 2020

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