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The semislug Megaustenia siamensis, commonly found in Thailand, is notable for its exceptional capacity to produce biological adhesives, enabling it to adhere to tree leaves even during heavy rainfall. In this study, we generated the first reference genome for M. siamensis using a combination of three sequencing technologies: Illumina's short-read, Pac-Bio's HIFI long-read, and Hi-C. The assembled genome size was 2593 billion base pairs (bp), containing 34,882 protein-coding genes. Our analysis revealed positive selection in pathways associated with the ubiquitin–proteasome system. Furthermore, RNA sequencing of foot and mantle tissues unveiled the primary constituents of the adhesive, including lectin-like proteins (C-lectin, H-lectin, and C1q) and matrilin-like proteins (VWA and EGF). Additionally, antimicrobial peptides were identified. The comprehensive M. siamensis genome and tissue-specific transcriptomic data provided here offer valuable resources for understanding its biology and exploring potential medical applications. [ABSTRACT FROM AUTHOR]

The Asian king vulture (AKV), a vital forest scavenger, is facing globally critical endangerment. This study aimed to construct a reference genome to unveil the mechanisms underlying its scavenger abilities and to assess the genetic relatedness of the captive population in Thailand. A reference genome of a female AKV was assembled from sequencing reads obtained from both PacBio long-read and MGI short-read sequencing platforms. Comparative genomics with New World vultures (NWVs) and other birds in the Family Accipitridae revealed unique gene families in AKV associated with retroviral genome integration and feather keratin, contrasting with NWVs’ genes related to olfactory reception. Expanded gene families in AKV were linked to inflammatory response, iron regulation and spermatogenesis. Positively selected genes included those associated with anti-apoptosis, immune response and muscle cell development, shedding light on adaptations for carcass consumption and high-altitude soaring. Using restriction site-associated DNA sequencing (RADseq)-based genome-wide single nucleotide polymorphisms (SNPs), genetic relatedness and inbreeding status of five captive AKVs were determined, revealing high genomic inbreeding in two females. In conclusion, the AKV reference genome was established, providing insights into its unique characteristics. Additionally, the potential of RADseq-based genome-wide SNPs for selecting AKV breeders was demonstrated. [ABSTRACT FROM AUTHOR]

Background: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. However, several other BAFME cases remain with no molecular diagnosis. Objectives: We aim to characterize clinical features and identify the mutation causing BAFME in a large Malian family with 10 affected members. Methods: Long‐read whole genome sequencing, repeat‐primed polymerase chain reaction and RNA studies were performed. Results: We identified TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1 gene that co‐segregated with disease status in this family. TTTCA repeats were absent in 200 Malian controls. In the affected individuals, we found a read with only nine TTTCA repeat units and somatic instability. The RAI1 repeat expansions cause the only BAFME type in which the disease‐causing repeats are in a gene associated with a monogenic disorder in the haploinsufficiency state (ie, Smith‐Magenis syndrome [SMS]). Nevertheless, none of the Malian patients exhibited symptoms related to SMS. Moreover, leukocyte RNA levels of RAI1 in six Malian BAFME patients were no different from controls. Conclusions: These findings establish a new type of BAFME, BAFME8, in an African family and suggest that haploinsufficiency is unlikely to be the main pathomechanism of BAFME. © 2023 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA. [ABSTRACT FROM AUTHOR]