title: Human basal body basics.
abstract: In human cells, the basal body (BB) core comprises a ninefold microtubule-triplet cylindrical structure. Distal and subdistal appendages are located at the distal end of BB, where they play indispensable roles in cilium formation and function. Most cells that arrest in the G0 stage of the cell cycle initiate BB docking at the plasma membrane followed by BB-mediated growth of a solitary primary cilium, a structure required for sensing the extracellular environment and cell signaling. In addition to the primary cilium, motile cilia are present in specialized cells, such as sperm and airway epithelium. Mutations that affect BB function result in cilia dysfunction. This can generate syndromic disorders, collectively called ciliopathies, for which there are no effective treatments. In this review, we focus on the features and functions of BBs and centrosomes in Homo sapiens.
authors.affiliation: Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA USA.
authors.forename: Anastassiia
authors.initials: A
authors.lastname: Vertii
authors.affiliation: Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA USA.
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Hung
authors.affiliation: Department of Cell and Developmental Biology, SUNY Upstate Medical University, Syracuse, NY USA.
authors.forename: Heidi
authors.initials: H
authors.lastname: Hehnly
authors.affiliation: Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA USA.
authors.forename: Stephen
authors.initials: S
authors.lastname: Doxsey
keywords: Basal body; Centrosome; Ciliopathy; Cilium; Human