Identification of Candidate Variants Associated With Bone Weight Using Whole Genome Sequence in Beef Cattle

Bone weight is critical to affect body conformation and stature in cattle. In this study, we conducted a genome-wide association study for bone weight in Chinese Simmental beef cattle based on the imputed sequence variants. We identified 364 variants associated with bone weight, while 350 of them were not included in the Illumina BovineHD SNP array, and several candidate genes and GO terms were captured to be associated with bone weight. Remarkably, we identified four potential variants in a candidate region on BTA6 using Bayesian fine-mapping. Several important candidate genes were captured, including LAP3, MED28, NCAPG, LCORL, SLIT2, and IBSP, which have been previously reported to be associated with carcass traits, body measurements, and growth traits. Notably, we found that the transcription factors related to MED28 and LCORL showed high conservation across multiple species. Our findings provide some valuable information for understanding the genetic basis of body stature in beef cattle.

Detection of 15-bp Deletion Mutation within PLAG1 Gene and Its Effects on Growth Traits in Goats

Stature and weight are important growth and development traits for animals, which also significantly affect the productivity of livestock. Polymorphic adenoma gene 1 (PLAG1) is located in the growth-related quantitative trait nucleotides (QTN), and its variation has been determined to significantly affect the body stature of bovines. This study found that novel 15-bp InDel could significantly influence important growth traits in goats. The frequencies of genotypes of the 15-bp mutation and relationship with core growth traits such as body weight, body height, height at hip cross, chest circumference, hip width and body index were explored in 1581 individuals among 4 Chinese native goat breeds. The most frequent genotypes of Shaanbei white Cashmere goat (SWCG), Inner Mongolia White Cashmere goat (IMCG) and Guanzhong Dairy goat (GZDG) were II genotypes (insertion/insertion), and the frequency of ID genotype (insertion/deletion) was found to be slightly higher than that of II genotype in Hainan Black goat (HNBG), showing that the frequency of the I allele was higher than that of the D allele. In adult goats, there were significant differences between 15-bp variation and body weight, chest circumference and body height traits in SWCG (p < 0.05). Furthermore, the locus was also found to be significantly correlated with the body index of HNBG (p = 0.044) and hip width in GZDG (p = 0.002). In regard to lambs, there were significant differences in height at the hip cross of SWCG (p = 0.036) and hip width in IMWC (p = 0.005). The corresponding results suggest that the 15-bp InDel mutation of PLAG1 is associated with the regulation of important growth characteristics of both adult and lamb of goats, which may serve as efficient molecular markers for goat breeding.

Cultural bias in motor function patterns: Potential relevance for predictive, preventive, and personalized medicine

Background Quantification of motor performance has a promising role in personalized medicine by diagnosing and monitoring, e.g. neurodegenerative diseases or health problems related to aging. New motion assessment technologies can evolve into patient-centered eHealth applications on a global scale to support personalized healthcare as well as treatment of disease. However, uncertainty remains on the limits of generalizability of such data, which is relevant specifically for preventive or predictive applications, using normative datasets to screen for incipient disease manifestations or indicators of individual risks. Objective This study explored differences between healthy German and Japanese adults in the performance of a short set of six motor tests. Methods Six motor tasks related to gait and balance were recorded with a validated 3D camera system. Twenty-five healthy adults from Chiba, Japan, participated in this study and were matched for age, sex, and BMI to a sample of 25 healthy adults from Berlin, Germany. Recordings used the same technical setup and standard instructions and were supervised by the same experienced operator. Differences in motor performance were analyzed using multiple linear regressions models, adjusted for differences in body stature. Results From 23 presented parameters, five showed group-related differences after adjustment for height and weight (R2 between .19 and .46, p<.05). Japanese adults transitioned faster between sitting and standing and used a smaller range of hand motion. In stepping-in-place, cadence was similar in both groups, but Japanese adults showed higher knee movement amplitudes. Body height was identified as relevant confounder (standardized beta >.5) for performance of short comfortable and maximum speed walks. For results of posturography, regression models did not reveal effects of group or body stature. Conclusions Our results support the existence of a population-specific bias in motor function patterns in young healthy adults. This needs to be considered when motor function is assessed and used for clinical decisions, especially for personalized predictive and preventive medical purposes. The bias affected only the performance of specific items and parameters and is not fully explained by population-specific ethnic differences in body stature. It may be partially explained as cultural bias related to motor habits. Observed effects were small but are expected to be larger in a non-controlled cross-cultural application of motion assessment technologies with relevance for related algorithms that are being developed and used for data processing. In sum, the interpretation of individual data should be related to appropriate population-specific or even better personalized normative values to yield its full potential and avoid misinterpretation.

Analyzing Trio-Anthropometric Predictors of Hypertension: Determining the Susceptibility of Blood Pressure to Sexual Dimorphism in Body Stature

Background. Several studies had suggested that complex body stature could be a risk factor of hypertension. Objectives. We aim to correlate body mass index (BMI), waist-hip ratio (WHR), and waist-height ratio (WHtR) of rural dwellers in Afikpo community, Ebonyi State, Nigeria, with blood pressure parameters. Furthermore, we aim to ascertain how each of the anthropometric variables affects blood pressure in men and women, respectively. Materials and Methods. A sample of 400 (200 males and 200 females) adults aged 18–89 years were selected for the correlation cross-sectional study. Data for weight, height, waist, and hip circumferences were collected by means of anthropometric measurement protocol with the aid of a calibrated flexible tape and health scale and mercury sphygmomanometer for measurement of blood pressure. A participant was classified as being hypertensive if systolic blood pressure (SBP) was >140 mmHg and diastolic blood pressure (DBP) >90 mmHg. Pulse pressure was recorded as the numeric difference of SBP and DBP. Results. The result revealed that male BMI and WHR were higher than those of females while female WHtR was higher than that of males ( P < 0.01). The prevalence of hypertension failed to correlate with sex among participants in the study (χ2 = 0.567; P < 0.05). Variation in SBP and DBP of both sexes was dependent on BMI, WHtR, and waist and hip circumference, but not on WHR. The SBP of both sexes and female pulse pressure did correlate with age ( P < 0.001). Waist circumference, BMI, and WHtR correctly predicted the variations in SBP, DBP, and pulse pressure. Conclusion. The strength of association of BMI, WHtR, and waist girth with SBP and DBP of both sexes was robust and similar, but inconsistent with WHR. Thus, a simple estimation of the trio-anthropometric predictors could serve as a means for routine check or preliminary diagnosis of a patient with hypertension.

A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle

Polledness in cattle is an autosomal dominant trait. Previous studies have revealed allelic heterogeneity at the polled locus and four different variants were identified, all in intergenic regions. In this study, we report a case of polled bull (FV-Polled1) born to horned parents, indicating a de novo origin of this polled condition. Using 50K genotyping and whole genome sequencing data, we identified on chromosome 2 an 11-bp deletion (AC_000159.1:g.52364063_52364073del; Del11) in the second exon of ZEB2 gene as the causal mutation for this de novo polled condition. We predicted that the deletion would shorten the protein product of ZEB2 by almost 91%. Moreover, we showed that all animals carrying Del11 mutation displayed symptoms similar to Mowat-Wilson syndrome (MWS) in humans, which is also associated with genetic variations in ZEB2. The symptoms in cattle include delayed maturity, small body stature and abnormal shape of skull. This is the first report of a de novo dominant mutation affecting only ZEB2 and associated with a genetic absence of horns. Therefore our results demonstrate undoubtedly that ZEB2 plays an important role in the process of horn ontogenesis as well as in the regulation of overall development and growth of animals.

BALTS ON THE TERRITORY OF UKRAINE IN THE OLD RUS PERIOD. ANTROPOLOGICAL ASPECT

The morphological similarities between the people buried in the cemeteries of Old Rus period from the territory of Ukraine and Balts population of the 12th—13th centuries were found. The samples used in this research are combined series of sculls from Volyn and drevlian’s fields, the group from Vozviagel, the little series from Jagniatyn, the group from Zelenyi Gai (barrows), and the group from Medzybizh. In the population buried in several cemeteries of the period of Old Rus the morphological complex characteristic for Baltic populations could be seen due to the ancient anthropological substrate. At the territory of Ukraine the areas of the big ethnic massifs were overlapped. North regions bordered with Baltic ethnic space or belonged to its periphery in different chronological periods. The inflow of some groups from the Baltic Sea region has been seen also during the Old Rus period. The traces of migrations of the 10th—13th centuries can be observed by the typical Baltic elements in the burial rites of the local cemeteries. The Medzybizh osteological sample turned out to be the most informative for anthropologists. Despite of the fact that all of the individuals belong to the circle of northern European people, the craniological analysis revealed some morphological heterogeneity of the people originating from paired burials. This concerned both male and female groups. For this population is characterized by the strong body structure and the high intravital body stature — 175.6 cm for male. The intergroup analysis was performed by several statistical methods for different numbers of groups (Systat software package). In course of this the skulls sample of Medzybizh paired burials was included to the Baltic massif. It reveals slightly greater statistical closeness to the population from the Zamait lands. The anthropological study showed that in the paired burials of the Medzybizh burial ground the people which had morphological similarity to the populations of the anthropological type spread in the Baltic region were buried. Some male possibly died during the armed conflict. The osteological features posed them as the probable cavalrymen. Presents of the females, who had similar morphological characteristics, in their graves, allows assuming that the wives came with warriors from the Baltic territories.

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. This study aimed to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. The diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with age as a result of the relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with the ratio of chest depth to chest width being significantly above the norm. The head and neck were relatively elongated, in comparison to body height, and tucked between narrow shoulders. The head had dolichocephalic shape, while the nose was short with wide nostrils. Conclusions: Multiple anthropometric measurements, including age ranges, allowed for the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

Background: Morquio A syndrome, or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. The aim of this study was to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. Diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with increasing age as a result of relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with ratio of chest depth and chest width was significantly above the norm. The head and neck were relatively elongated in comparison to body height and tucked between narrow shoulders. The head was narrow and elongated, while the nose was short with wide nostrils. Conclusions: Multiple measurements – including age ranges – allowed the creation of a model that showed the most characteristic features of the MPS IVA phenotype.