Heritability and genetic gain of some morphophysiological variables of durum wheat (Triticum turgidum var. durum)

The purpose of this work is to estimate genetic variability parameters and relationship among 11 agrophysiological traits studied on 18 experimental durum wheat and two checks under rainfed condition. The studied traits included the grain yield (YLD), plant height (PH), number of tiller per plant (NT), peduncle length (PL), flag length (FL), leaf dry weight (LDW), stem dry weight (STW), spike dry weight (SPW), spike height (SH), leaf area index (LAI), crop growth rate (CGR), relative growth rate (RGR), leaf area ratio (LAR) and net assimilation rate (NAR). Analysis of variance showed a significantly variation among genotypes for the characters PH, NT, PL, FL, LDW, STW, SPW, SH, LAR and NAR. High correlations were found among the PL, LDW, STW, SPW, LAR and NAR. Heritability estimates were high for PH, PL, LDW, STW and NAR. High genetic gains were observed for YLD, NT, PL, LDW, STW, SPW, LAR and NAR

Correlational Analysis of Agronomic and Seed Quality Traits in Camelina sativa Doubled Haploid Lines under Rain-Fed Condition

Camelina (Camelina sativa (L.) Crantz) is an emerging industrial crop from the Brassicaceae family, with its seed oil and cake being used for food, feed, and fuel applications. In this study, the relationships between economically important agronomic traits including seed yield (SY), days to maturity (DM), 1000-seed weight (TSW), seed protein content (PC), seed oil content (OC), and fatty acid composition in 136 doubled haploid (DH) camelina lines were investigated under rain-fed conditions in two consecutive years. There was prominent diversity among the studied DH lines for the agronomic traits such as seed yield, erucic acid, omega3, protein content, etc. Based on the Pearson correlation analysis of the data, SY was positively correlated with DM and OC, and negatively correlated with TSW, PC, and linolenic acid (C18:3) content. The positive relationships of the main characteristics, relevant to industrial applications, suggest the feasibility of developing new higher-yielding camelina cultivars with high seed oil content. The high seed yield of some camelina lines (DH044 and DH075) during the two growing seasons showed the potential of the lines. On the other hand, the contrasting genotypes for key traits in this study promised a favorable source to develop the superior breeding lines with higher seed yield and food/nonfood traits. Therefore, it can be concluded that the diversity of camelina DH lines traits is crucial for developing new cultivars. Furthermore, the present study reports some significant correlations among the DH lines, which may be useful for the current and future camelina breeding program

The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia

Background: Congenital Adrenal Hyperplasia (CAH, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. More than 95 of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD). Females with severe, classic 21-OHD are exposed to excess androgens prenatally and are born with virilized external genitalia. Most patients cannot synthesize sufficient aldosterone to maintain sodium balance and may develop potentially fatal salt wasting crisis if not treated. Methods: We applied allele specific PCR to detect the eight common mutations in the CYP21 gene in patients. Fifty unrelated patients with symptoms of classical CAH were studied. Results and Conclusion: Seventy percent of our subjects had these mutations. The most frequent mutations were found to be I2G and del-8bp (28 and 13, respectively). The frequencies of other alleles were as following: I172N, 9; V281L, 3; exon 6 cluster (I236N, V237E and M239K), 4; Q318X, 9; R356W, 5; and P30L, 0. The frequency of mutations did not differ substantially from other ethnics, however, a higher rate of del-8 bp (13) was found in our population. The aim of this study was to detect common mutations for setting up a molecular method for prenatal diagnosis

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

Background The X chromosome has historically been one of the most thoroughly investigated chromosomes regarding intellectual disability (ID), whose etiology is attributed to many factors including copy number variations (CNVs). Duplications of the long arm of the X chromosome have been reported in patients with ID, short stature, facial anomalies, and in many cases hypoplastic genitalia and/or behavioral abnormalities. Methods Here, we report on a large Iranian family with X‐linked ID caused by a duplication on the X chromosome identified by whole genome sequencing in combination with linkage analysis. Results Seven affected males in different branches of the family presented with ID, short stature, seizures, facial anomalies, behavioral abnormalities (aggressiveness, self‐injury, anxiety, impaired social interactions, and shyness), speech impairment, and micropenis. The duplication of the region Xq13.2q13.3, which is ~1.8 Mb in size, includes seven protein‐coding OMIM genes. Three of these genes, namely SLC16A2, RLIM, and NEXMIF, if impaired, can lead to syndromes presenting with ID. Of note, this duplicated region was located within a linkage interval with a LOD score >3. Conclusion Our report indicates that CNVs should be considered in multi‐affected families where no candidate gene defect has been identified in sequencing data analysis

Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients

Mutations in adaptor protein complex‐4 (AP‐4) genes have first been identified in 2009, causing a phenotype termed as AP‐4 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype‐phenotype correlation of the AP‐4 deficiency syndrome, we add the data from 30 affected individuals from 12 out of 640 Iranian families with ID in whom we detected disease‐causing variants in AP‐4 complex subunits, using next‐generation sequencing. Furthermore, by comparing genotype‐phenotype findings of those affected individuals with previously reported patients, we further refine the genotype‐phenotype correlation in this syndrome. The most frequent reported clinical findings in the 101 cases consist of ID and/or global developmental delay (97%), speech disorders (92.1%), inability to walk (90.1%), spasticity (77.2%), and microcephaly (75.2%). Spastic tetraplegia has been reported in 72.3% of the investigated patients. The major brain imaging findings are abnormal corpus callosum morphology (63.4%) followed by ventriculomegaly (44.5%). Our result might suggest the AP‐4 deficiency syndrome as a major differential diagnostic for unknown hereditary neurodegenerative disorders

Mutations in NSUN2 cause autosomal-recessive intellectual disability

With a prevalence between 1 and 3%, hereditary forms of intellectual disability (ID) are among the most important problems in health care. Particularly, autosomal-recessive forms of the disorder have a very heterogeneous molecular basis, and genes with an increased number of disease-causing mutations are not common. Here, we report on three different mutations (two nonsense mutations, c.679C>T [p.Gln227( *)] and c.1114C>T [p.Gln372( *)], as well as one splicing mutation, g.6622224A>C [p.Ile179Argfs( *)192]) that cause a loss of the tRNA-methyltransferase-encoding NSUN2 main transcript in homozygotes. We identified the mutations by sequencing exons and exon-intron boundaries within the genomic region where the linkage intervals of three independent consanguineous families of Iranian and Kurdish origin overlapped with the previously described MRT5 locus. In order to gain further evidence concerning the effect of a loss of NSUN2 on memory and learning, we constructed a Drosophila model by deleting the NSUN2 ortholog, CG6133, and investigated the mutants by using molecular and behavioral approaches. When the Drosophila melanogaster NSUN2 ortholog was deleted, severe short-term-memory (STM) deficits were observed; STM could be rescued by re-expression of the wild-type protein in the nervous system. The humans homozygous for NSUN2 mutations showed an overlapping phenotype consisting of moderate to severe ID and facial dysmorphism (which includes a long face, characteristic eyebrows, a long nose, and a small chin), suggesting that mutations in this gene might even induce a syndromic form of ID. Moreover, our observations from the Drosophila model point toward an evolutionarily conserved role of RNA methylation in normal cognitive development

Limbic system associated membrane protein mutation in an iranian family diagnosed with ménière's disease

Background: Ménière's disease (MD) is a common inner ear disorder which is characterized by recurrent attacks of vertigo, fluctuating sensorineural hearing loss (SNHL), tinnitus, and a sense of fullness in the affected ear. MD is a complex disorder; although six genes have been linked to familial autosomal dominant form of the disease, in many cases, the exact genetic etiology remains elusive. Methods: To elucidate the genetic causes of MD in an Iranian family, we performed exome sequencing on all members of the family: consanguineous parents and four children (two affected and two unaffected). Variant filtering was completed using a customized workflow keeping variants based on segregation with MD in autosomal recessive (AR) inheritance pattern, minor allele frequency (MAF), and in-silico prediction of pathogenicity. Results: Analysis revealed that in this family, 970 variants co-segregated with MD in AR pattern, out of which eight variants (one intergenic, four intronic, and three exonic) were extremely rare. The exonic variants included a synonymous substitution in USP3 gene, an in-frame deletion in ZBED2 gene, and a rare, highly conserved deleterious missense alteration in LSAMP gene. Conclusion: The phenotype observed in the proband described here, i.e. vertigo, poor sense of smell, tinnitus, and borderline hearing ability, may originate from aberrant changes in the cerebellum and limbic system due to a deleterious mutation in the LSAMP gene; hence, LSAMP mutation is a possible candidate for the etiology of MD in this family. © 2020 The authors and IJLTER.ORG. All rights reserved