Primary cilia-associated protein IFT172 in ciliopathies.

Cilium is a highly conserved antenna-like structure protruding from the surface of the cell membrane, which is widely distributed on most mammalian cells. Two types of cilia have been described so far which include motile cilia and immotile cilia and the latter are also known as primary cilia. Dysfunctional primary cilia are commonly associated with a variety of congenital diseases called ciliopathies with multifaceted presentations such as retinopathy, congenital kidney disease, intellectual disability, cancer, polycystic kidney, obesity, Bardet Biedl syndrome (BBS), etc. Intraflagellar transport (IFT) is a bi-directional transportation process that helps maintain a balanced flow of proteins or signaling molecules essential for the communication between cilia and cytoplasm. Disrupted IFT contributes to the abnormal structure or function of cilia and frequently promotes the occurrence of ciliopathies. Intraflagellar transport 172 (IFT172) is a newly identified member of IFT proteins closely involved in some rare ciliopathies such as Mainzer-Saldino syndrome (MZSDS) and BBS, though the underpinning causal mechanisms remain largely elusive. In this review, we summarize the key findings on the genetic and protein characteristic of IFT172, as well as its function in intraflagellar transport, to provide comprehensive insights to understand IFT172-related ciliopathies.

Characteristics and potential functional effects of long insertions in Asian butternuts.

BACKGROUND: Structural variants (SVs) play important roles in adaptation evolution and species diversification. Especially, in plants, many phenotypes of response to the environment were found to be associated with SVs. Despite the prevalence and significance of SVs, long insertions remain poorly detected and studied in all but model species. RESULTS: We used whole-genome resequencing of paired reads from 80 Asian butternuts to detect long insertions and further analyse their characteristics and potential functional effects. By combining of mapping-based and de novo assembly-based methods, we obtained a multiple related species pangenome representing higher taxonomic groups. We obtained 89,312 distinct contigs totaling 147,773,999 base pair (bp) of new sequences, of which 347 were putative long insertions placed in the reference genome. Most of the putative long insertions appeared in multiple species; in contrast, only 62 putative long insertions appeared in one species, which may be involved in the response to the environment. 65 putative long insertions fell into 61 distinct protein-coding genes involved in plant development, and 105 putative long insertions fell into upstream of 106 distinct protein-coding genes involved in cellular respiration. 3,367 genes were annotated in 2,606 contigs. We propose PLAINS ( https://github.com/CMB-BNU/PLAINS.git ), a streamlined, comprehensive pipeline for the prediction and analysis of long insertions using whole-genome resequencing. CONCLUSIONS: Our study lays down an important foundation for further whole-genome long insertion studies, allowing the investigation of their effects by experiments.

Deficits in Sense of Body Ownership, Sensory Processing, and Temporal Perception in Schizophrenia Patients With/Without Auditory Verbal Hallucinations.

It has been claimed that individuals with schizophrenia have difficulty in self-recognition and, consequently, are unable to identify the sources of their sensory perceptions or thoughts, resulting in delusions, hallucinations, and unusual experiences of body ownership. The deficits also contribute to the enhanced rubber hand illusion (RHI; a body perception illusion, induced by synchronous visual and tactile stimulation). Evidence based on RHI paradigms is emerging that auditory information can make an impact on the sense of body ownership, which relies on the process of multisensory inputs and integration. Hence, we assumed that auditory verbal hallucinations (AVHs), as an abnormal auditory perception, could be linked with body ownership, and the RHI paradigm could be conducted in patients with AVHs to explore the underlying mechanisms. In this study, we investigated the performance of patients with/without AVHs in the RHI. We administered the RHI paradigm to 80 patients with schizophrenia (47 with AVHs and 33 without AVHs) and 36 healthy controls. We conducted the experiment under two conditions (synchronous and asynchronous) and evaluated the RHI effects by both objective and subjective measures. Both patient groups experienced the RHI more quickly and strongly than HCs. The RHI effects of patients with AVHs were significantly smaller than those of patients without AVHs. Another important finding was that patients with AVHs did not show a reduction in RHI under asynchronous conditions. These results emphasize the disturbances of the sense of body ownership in schizophrenia patients with/without AVHs and the associations with AVHs. Furthermore, it is suggested that patients with AVHs may have multisensory processing dysfunctions and internal timing deficits.