Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients

Background: Facioscapulohumeral muscular dystrophy is the third most commonly found type of muscular dystrophy. The aim of this study was to correlate the D4Z4 repeat array fragment size to the orofacial muscle weakening exhibited in a group of patients with a genetically supported diagnosis of FSHD. Methods: Molecular genetic analysis was performed for 52 patients (27 female and 25 male) from a group that consisted of 36 patients with autosomal dominant pedigrees and 16 patients with either sporadic or unknown family status. The patients were tested with the southern blotting technique, using EcoRI/Avrll double digestion, and fragments were detected by a p13E-11 telomeric probe. Spearman’s correlation was used to compare the fragment size with the degree of muscle weakening found in the forehead, periocular and perioral muscles. Results: A positive non-significant correlation between the DNA fragment size and severity of muscle weakness was found for the forehead (r = 0.27; p = 0187), the periocular (r = 0.24; p = 0.232) and the left and right perioral (r = 0.29; p = 0.122), (r = 0.32; p = 0.085) muscles. Conclusions: Although FSHD patients exhibited a decrease in muscular activity related to the forehead, perioral, and periocular muscles the genotype–phenotype associations confirmed a weak to moderate non-significant correlation between repeat size and the severity of muscle weakness. Orofacial muscle weakening and its association with a D4Z4 contraction alone may not have the significance to serve as a prognostic biomarker, due to the weak to moderate association. Further studies with larger sample sizes are needed to determine the degree of genetic involvement in the facial growth in FSHD patients.

WisecondorFF: Improved Fetal Aneuploidy Detection from Shallow WGS through Fragment Length Analysis

In prenatal diagnostics, NIPT screening utilizing read coverage-based profiles obtained from shallow WGS data is routinely used to detect fetal CNVs. From this same data, fragment size distributions of fetal and maternal DNA fragments can be derived, which are known to be different, and often used to infer fetal fractions. We argue that the fragment size has the potential to aid in the detection of CNVs. By integrating, in parallel, fragment size and read coverage in a within-sample normalization approach, it is possible to construct a reference set encompassing both data types. This reference then allows the detection of CNVs within queried samples, utilizing both data sources. We present a new methodology, WisecondorFF, which improves sensitivity, while maintaining specificity, relative to existing approaches. WisecondorFF increases robustness of detected CNVs, and can reliably detect even at lower fetal fractions (<2%).

Remained Large Bone Fragment of Bony Bankart Lesion in Shoulders With a Subcritical Glenoid Defect at Recurrent Anterior Instability

Background: A preoperative glenoid defect of 13.5% or larger is recognized as a subcritical glenoid defect at arthroscopic Bankart repair (ABR) for collision/contact athletes or military personnel. Purpose: To clarify the prevalence and size of remaining bone fragments in shoulders with a subcritical glenoid defect at recurrent anterior instability and to investigate the influence on postoperative recurrence after ABR for younger competitive athletes. Study Design: Cohort study; Level of evidence, 4. Methods: The study included 96 shoulders with recurrent instability that underwent ABR between July 2011 and March 2018 for shoulders with a subcritical glenoid defect. The patients were divided into 2 groups according to the glenoid defect size (13.5%-<20%, medium; ≥20%, large). The bone fragment size in each defect group was retrospectively investigated and classified into 4 groups (no, 0%; small, >0%-<5%; medium, 5%-<10%; large, ≥10%). The postoperative recurrence rate for each combination of glenoid defect size and bone fragment size was investigated for competitive athletes aged <30 years. The fragments, when present, were repaired to the glenoid. Results: The glenoid defect size was 13.5%-<20% in 60 shoulders (medium defect group) and ≥20% in 36 shoulders (large defect group). The mean bone fragment size was 6.7% ± 5.1% and 8.9% ± 4.9%, respectively ( P = .042). In the medium defect group, there were 15 shoulders (25%) without a bone fragment, 6 shoulders (10%) with a small fragment, 23 shoulders (38.3%) with a medium fragment, and 16 shoulders (26.7%) with a large fragment. In the large defect group, the respective numbers were 2 shoulders (5.6%), 6 shoulders (16.7%), 14 shoulders (38.9%), and 14 shoulders (38.9%). A medium or large bone fragment was more common in the large defect group ( P = .252). Among 64 younger competitive athletes who underwent ABR with a minimum of 2 years of follow-up, postoperative recurrence was recognized in 7 of 38 (18.4%) athletes in the medium defect group, but it was not recognized in any of the 26 athletes in the large defect group ( P = .036). Postoperative recurrence was recognized in 4 of 12 (33.3%) athletes with a small fragment or no fragment and in 3 of 52 (5.8%) athletes with a medium or large fragment ( P = .019). Conclusion: A larger bone fragment frequently remained in shoulders with a subcritical glenoid defect at recurrent instability. The postoperative recurrence rate after ABR for younger competitive athletes was low when a remaining larger bone fragment was repaired.

A 2.09 Mb fragment translocation on chromosome 6 causes abnormalities during meiosis and leads to less seed watermelon

Seedlessness is a valuable agronomic trait in watermelon (Citrullus lanatus) breeding. Conventional less seed watermelons are mainly triploid, which has many disadvantages due to unbalanced genome content. Less seed watermelon can be achieved at the diploid level when certain reproductive genes are mutated or by chromosome translocation, which leads to defects during meiosis. However, the formation mechanism of diploid less seed watermelons remains largely unknown. Here, we identified a spontaneous mutant line, watermelon line “148”, which can set seeds normally when self-pollinated. A total of 148 × JM F1 hybrid plants exhibited seed number reductions to 50.3% and 47.3% of those of the two parental lines, respectively, which are considered to be less seed. Examination of pollen viability and hybridization experiments revealed that F1 hybrids produce semisterile pollen and ovules. Further cytological observations indicated that semisterility was a result of a reciprocal translocation of chromosomes, which exhibited one quadrivalent ring of four chromosomes at prometaphase I during meiosis. RT-qPCR analysis indirectly confirmed that the semisterile phenotype is caused by chromosome translocation rather than disruption of specific meiotic gene expression. F2 population genetic analysis indicated that the “148” watermelon line is a homozygous translocation and that the less seed phenotype of the F1 hybrid is prompted by one chromosome fragment translocation. The translocated fragment was further fine mapped to a 2.09 Mb region on chromosome 6 by whole-genome resequencing and genetic map cloning procedures. Our work revealed that a 2.09 Mb chromosome fragment translocation on chromosome 6, causing meiotic defects at metaphase I during meiosis, leads to diploid less seed watermelon. Our findings provide a new promising method for less seed watermelon breeding at the diploid level, as well as a fragment size reference for breeding less seed watermelon through artificially induced chromosome translocation.

Linking Plant Functional Traits to Demography in a Fragmented Landscape

Habitat loss in highly deforested landscapes such as the Brazilian Atlantic Forest has been severely affecting the diversity and survival of palm species. As some species are more sensitive than others, trait responses to the environment, as well as environmental effects on fecundity, growth, and mortality rates, may affect species demography. Considering this context, we studied functional and demographic responses of three palm species (Astrocaryum aculeatissimum, Euterpe edulis, and Geonoma schottiana) to habitat loss in the Atlantic Forest in southeastern Brazil by measuring morpho-physiological traits related to plant growth and light acquisition for photosynthesis. We also tested the response of population fitness to fragment size. Plant survival and growth was subsequently monitored in 2006 and 2007, and population dynamics were summarized in pool matrices for large and small forest fragments in the monitoring periods comprehending one full year between 2005–2006 and 2006–2007. The asymptotic growth rate of populations (defined here as population fitness, λ) in five forest fragments was then calculated. Diameter of individuals of the demography plots (from year 2005 to 2007) was used to calculate the relative diameter growth rate. Later, in 2015, we measured a set of morpho-physiological functional traits in palms in the same plots used in the demographic studies. While A. aculeatissimum populations were stable in both monitoring periods in small and large fragments, E. edulis populations were predicted to decline due to intense predation by monkeys in the large fragment, but were stable in the smaller fragments, and G. schottiana populations were stable in the large fragments in both monitoring periods, but populations in the smaller fragments were predicted to decline in the second period, i.e., with lower fitness in these fragments. In addition, the functional traits analyzed showed that G. schottiana is a forest interior species associated with the shade/understory environment response. E. edulis was also affected by the size of the fragment, but due to a disruptive interaction with a predator and showed intermediate functional traits values. On the other hand, A. aculeatissimum thrived in areas with higher and lower incidence of light and was not demographically affected by forest remnant size. This suggests that E. edulis and A. aculeatissimum are habitat generalists. We concluded that differences in the ecophysiological performance of palms due to distinct morpho-physiological functional traits related to leaf economic spectrum, such as LDMC or specific leaf area (SLA) and to photosynthetic responses to light environment as electron transport rate (ETR) and saturation irradiance (Ik) were linked to the demographic variation observed in forest remnants of different size.