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SPEF1 is a conserved calponin-homology domain protein that decorates the seam of central pair microtubules in the distal segment of motile cilia. Here, we show that in the ciliate Tetrahymena, loss of SPEF1 disrupts the central pair throughout the middle segment, which comprises most of the cilium, producing gaps in the microtubule lattice, truncations of proximal microtubule regions, and loss of lateral projections. Although visible structural defects were restricted to the central...

CONCLUSIONS: Our case highlights the importance of early diagnosis, comprehensive management, and genetic counseling in ARPKD, particularly within the Jordanian population as well as neighboring demographics with high rates of consanguinity.

Orofaciodigital syndrome type VI (OFD VI) is a recessive ciliopathy characterized by excessive polydactyly, molar tooth sign, cleft lip, and developmental delay, caused by pathogenic variants in CPLANE1. Here, we present a patient with OFD VI that remained genetically unexplained after routine genetic testing, including short-read whole genome sequencing (WGS). Using long-read sequencing, we found two biallelic splice-site variants in CPLANE1, c.8633-4_8633-3del, and an Alu element insertion...

Adult muscle stem cells are responsible for skeletal muscle regeneration, a process where quiescent muscle stem cells activate, enter the cell cycle, and proliferate to give rise to either lineage-committed myoblasts for new muscle fiber formation, or self-renewing cells to replenish the stem cell reservoir. The regenerative capacity of muscle stem cells relies on their precise reception of environmental cues and appropriate intracellular responses. Quiescent muscle stem cells display a primary...

Freshly harvested airway samples are routinely collected and imaged to study cilia function and diagnose motile ciliopathies. A previous study has suggested that Dulbecco's phosphate-buffered saline (DPBS) is just as effective as complex traditional cell culture media for the ex vivo assessment of cilia motility using mouse airway samples. The use of a less complex media to study cilia motility would be beneficial in reducing exogenous factors typically found in complex cell culture media that...