Ift25 is not a cystic kidney disease gene but is required for early steps of kidney development.

Autor: Desai PB; Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA 01605, United States., San Agustin JT; Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA 01605, United States., Stuck MW; Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA 01605, United States., Jonassen JA; Department of Microbiology and Physiological Systems, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655, United States., Bates CM; Department of Pediatrics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, 5130 Rangos Research Center, 4401 Penn Avenue, Pittsburgh, PA 15224, United States., Pazour GJ; Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA 01605, United States. Electronic address: gregory.pazour@umassmed.edu.
Jazyk: angličtina
Zdroj: Mechanisms of development [Mech Dev] 2018 Jun; Vol. 151, pp. 10-17. Date of Electronic Publication: 2018 Apr 04.
DOI: 10.1016/j.mod.2018.04.001
Abstrakt: Eukaryotic cilia are assembled by intraflagellar transport (IFT) where large protein complexes called IFT particles move ciliary components from the cell body to the cilium. Defects in most IFT particle proteins disrupt ciliary assembly and cause mid gestational lethality in the mouse. IFT25 and IFT27 are unusual components of IFT-B in that they are not required for ciliary assembly and mutant mice survive to term. The mutants die shortly after birth with numerous organ defects including duplex kidneys. Completely duplex kidneys result from defects in ureteric bud formation at the earliest steps of metanephric kidney development. Ureteric bud initiation is a highly regulated process involving reciprocal signaling between the ureteric epithelium and the overlying metanephric mesenchyme with regulation by the peri-Wolffian duct stroma. The finding of duplex kidney in Ift25 and Ift27 mutants suggests functions for these genes in regulation of ureteric bud initiation. Typically the deletion of IFT genes in the kidney causes rapid cyst growth in the early postnatal period. In contrast, the loss of Ift25 results in smaller kidneys, which show only mild tubule dilations that become apparent in adulthood. The smaller kidneys appear to result from reduced branching in the developing metanephric kidney. This work indicates that IFT25 and IFT27 are important players in the early development of the kidney and suggest that duplex kidney is part of the ciliopathy spectrum.
(Copyright © 2018 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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