Biology subjects

Huang, S.-M.

Publications and source records attributed to Huang, S.-M..

3 recordsLinked to original sources

bioRxiv2026

Referential and attentional accounts of dog point-following in an asymmetric multi-cup design

Human pointing is often used to test whether dogs extract object-specific information from human communicative cues. However, above-chance responses in standard object-choice tasks do not by themselves distinguish between a referential interpretation, in which the gesture identifies a specific target, and an attentional interpretation, in which it primarily biases behaviour toward a broader spatial region. We addressed this issue using an asymmetric six-cup arrangement designed to separate coarse side guidance from exact cup localisation more clearly than a symmetric multi-cup design. Performance in domestic dogs was analysed using three measures: the probability of reaching the correct side, the probability of choosing the correct cup overall, and the probability of choosing the correct cup conditional on having first reached the correct side. The principal comparison involved three matched trial classes: the symmetric 3-vs-3 condition, 2-vs-4 trials with the baited cup on the 2-cup side, and 2-vs-4 trials with the baited cup on the 4-cup side. Descriptively, pointing trials exceeded matched no-point control trials more clearly for side selection than for overall cup choice. The clearest condition effect was observed at the level of side guidance. Dogs were most likely to reach the correct side when the baited cup was located on the 4-cup side of the unequal arrangement. Mixed-effects models confirmed a reliable group effect for side accuracy, whereas overall cup accuracy showed only a weaker and less robust condition effect, and within-side localisation revealed no reliable group difference once condition-specific chance baselines were taken into account. A complementary generative model comparison converged on the same conclusion: a referential-only model fit poorly, an attention-only model captured most of the grouped outcome structure, and a combined model yielded only a modest improvement. Dog point-following is therefore best understood as a layered process dominated by attentional guidance, with only limited additional target-specific localisation.

animal behavior and cognition↗

bioRxiv2020

Whole exome sequencing identifies novel DYT1 dystonia-associated genome variants as potential disease modifiers

Background DYT1 dystonia is a neurological movement disorder characterized by painful sustained muscle contractions resulting in abnormal twisting and postures. In a subset of patients, it is caused by a loss-of-function mutation (ΔE302/303; or ΔE) in the luminal ATPases associated with various cellular activities (AAA+) protein torsinA encoded by the TOR1A gene. The low penetrance of the ΔE mutation (∼30-40%) suggests the existence of unknown genetic modifiers of DYT1 dystonia.Methods To identify these modifiers, we performed whole exome sequencing of blood leukocyte DNA isolated from two DYT1 dystonia patients, three asymptomatic carriers of the ΔE mutation, and an unaffected adult relative.Results A total of 264 DYT1 dystonia-associated variants (DYT1 variants) were identified in 195 genes. Consistent with the emerging view of torsinA as an important regulator of the cytoskeleton, endoplasmic reticulum homeostasis, and lipid metabolism, we found DYT1 variants in genes that encode proteins implicated in these processes. Moreover, 40 DYT1 variants were detected in 32 genes associated with neuromuscular and neuropsychiatric disorders.Conclusion The DYT1 variants described in this work represent exciting new targets for future studies designed to increase our understanding of the pathophysiology and pathogenesis of DYT1 dystonia.Competing Interest StatementThe authors have declared no competing interest.View Full Text

genetics↗

bioRxiv2019

Association of SYNE2 variants in accelerating the progress of DYT1 early-onset isolated dystonia

DYT1 early-onset isolated dystonia (DYT1 dystonia), a rare autosomal dominant (AD) primary dystonia, is categorized as a monogenic disease. While it is a well-known AD inherited disease, the relatively low penetrance rate implicates potential modifiers in play for disease progression. In this report, an affected individual with TOR1A gene (c.907_909delGAG, p.E303del) variant, was identified along with three additional AD carriers in the family. Since we failed to find the second hit variant from TOR1A (D216H, F323_Y328del and F205I) and major binding proteins, including TOR1AIP1 and 2 or HSPA8 proteins, subsequent whole exome sequencing on the patient, the carriers and a non-carrier family member were performed to screen for candidate modifiers of TOR1A (E303del). The result reveals that this patient distinctly carries one copy of TOR1A gene (c.907_909delGAG, p.E303del) and one or two copy of SYNE2 gene (c.1721T>C, c.12001T>C, and c.12002G>A), encoding I574T, W4001R, and W4001Ter variants. We propose that these SYNE2 variants are linked to earlier disease onset in this patient by impacting the protein-protein interaction between TOR1A and SYNE2. Our study suggests SYNE2 gene maybe a culprit to lower the threshold for DYT1 dystonia progression and provides one novel gene target for further screening diagnosis of DYT1 dystonia.

genetics↗