Magnetic resonance imaging evaluation and nuclear receptor binding SET domain protein 1 mutation in the Sotos syndrome with attention-deficit/hyperactivity disorder

Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopment and psychiatric disorder in childhood.Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.Magnetic resonance imaging(MRI)has been used to assess medical images in Sotos syndrome and ADHD.The images process is considered to display in MRI while wavelet fusion has been used to integrate distinct images for achieving more complete information in single image in this editorial.In the future,genetic mechanisms and artificial intelligence related to medical images could be used in the clinical diagnosis of Sotos syndrome and ADHD.

Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures

Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory seizures.To develop in vivo models to study the role of Na^(+)/K^(+)-ATPase in these diseases,we modified the Drosophila gene homolog,Atpα,to mimic the human ATP1A1 gene mutations that cause CMT2.Mutations located within the helical linker region of human ATP1A1(I592T,A597T,P600T,and D601F)were simultaneously introduced into endogenous Drosophila Atpαby CRISPR/Cas9-mediated genome editing,generating the Atpα^(TTTF)model.In addition,the same strategy was used to generate the corresponding single point mutations in flies(Atpα^(I571T),Atpα^(A576T),Atpα^(P579T),and Atpα^(D580F)).Moreover,a deletion mutation(Atpα^(mut))that causes premature termination of translation was generated as a positive control.Of these alleles,we found two that could be maintained as homozygotes(Atpα^(I571T)and Atpα^(P579T)).Three alleles(Atpα^(A576T),Atpα^(P579)and Atpα^(D580F))can form heterozygotes with the Atpαmut allele.We found that the Atpαallele carrying these CMT2-associated mutations showed differential phenotypes in Drosophila.Flies heterozygous for Atpα^(TTTF)mutations have motor performance defects,a reduced lifespan,seizures,and an abnormal neuronal morphology.These Drosophila models will provide a new platform for studying the function and regulation of the sodium-potassium pump.

The Mutation Breeding and Mutagenic Effect of Air Plasma on Penicillium Chrysogenum

Low temperature air plasma was used as the mutation tool for penicillin-producing strain Penicillium chrysogenum. The discharge conditions were RF power of 360 W, temperature of 40℃ in a sealed chamber, and pressure of 10 Pa to 30 Pa. The result showed that the kinetics of the survival rate followed a typical saddle-shaped curve. Based on a statistic analysis, at the treating duration of 10 min, the positive mutation rate was as high as 37.5% while the negative mutation rate was low. The colonial morphology changed obviously when the plasma treating duration reached or exceeded 45 min. After both primary and secondary screening, a mutant designated as aPc051310 with high productivity of penicillin was obtained, and a strong mutagenic effect on P. chrysogenurn was observed in the process. It was proved that after five generations, the mutant aPc051310 still exhibits a high productivity. All the results prove that the plasma mutation method could be developed as a convenient and effective tool to breed high-yield strains in the fermentation industry, while expanding the plasm application at the same time.

Breeding of an F_1 Hybrid Cultivar Hangjiao Huangshuai by Space Mutation Breeding Technique

Hangjiao Huangshuai is a processing type yellow pepper F1 hybrid cultivar bred with the inbred line 032-1-2-1-1-H-H bred through space treatment as the female parent and 082-1-1-H-H free of space treatment as the male parent. The fruit is in the shape of long finger with few wrinkles and good gloss, and tastes very spicy .The fruit has a vertical diameter of 17.5 cm, a transverse diameter of 1.6 cm, a fresh thickness of 0,20 cm and a single fruit weight of 15.6 g. It is yellowishgreen in the early maturation stage and yellow in the late maturation stage. The cultivar exhibited high resistance to pepper blight, viral diseases and powdery mildew, and showed an average yield of 56 493,0 kg/hm^2. It could be generalized in Gansu, Ningxia, Liaoning and Zhejiang.

Mutation Breeding of β-carotene Producing Strain B. trispora by Low Energy Ion Implantation

Ion beam bioengineering technology as a new mutation approach has been widely used in the biological breeding field. In this paper the application of low energy nitrogen ion implantation in the β-carotene producing strain, Blakeslea trispora（-） was investigated. The effects of different fermentation conditions on β-carotene production by a high yield strain were examined. Results showed that two β-carotene high yielding strains B.trispora（-） BH3-701 and BH3-728 were screened out and the averaged production of β-carotene was raised by 178.7% and 164.6% respectively after five passages in the shaking flasks. Compared with the original strain, the highest yield strain BH3-701 was potent in accumulating β-carotene, especially in the later stage, and greatly increased production efficiency.

Mutation Breeding of Lactobacillus and Its Application in Yoghurt

With the gradual improvement of the quality of people’s life, the disorder of lipid metabolism caused by high-fat diet has become the main reason that affects the health of our people. Hyperlipidemia, hypertension and hyperglycemia have the effect of causing a large number of serious complications, and are also the main factors of cardiovascular disease. Lactic acid bacteria can avoid hyperlipidemia by inhibiting the excessive growth of harmful intestinal bacteria, maintaining the balance of intestinal microecology, absorbing intestinal cholesterol and regulating lipid metabolism. Therefore, this paper focused on the mutation and breeding of Lactobacillus, and analyzed its application in yoghurt, aiming to provide reference for relevant researchers.

Breeding Sorghum Using Induced Mutations: Future Prospect for Namibia

In arid and semi-arid regions of the world sorghum stands out as a climate change-ready crop with high potential for the production of food, feed, fodder, fiber and fuel in the face of increasing human population. The present review highlights induced mutation breeding technique as a potential tool for improving sorghum in Namibia. The review discussed the following issues;crop improvement using mutagens, mutant screening, selection and evaluation, impact of induced mutation breeding, factors for declining production and future implication of sorghum mutation breeding. In Namibia, severe drought stress resulting in total crop failure has become frequent. This is partly a consequence of farmers growing crop varieties which cannot withstand impact of drought. As such Namibia has limited drought tolerant varieties available for the diverse agro-ecologies. Farmers keep growing the familiar landraces which performs well in good rainfall years but fails to produce stable yield with irregular and erratic rainfall. Thus, breeding new sorghum varieties of high yield and quality combined with multiple agronomic traits including pest and disease resistance and high efficiency in nutrient and water use is needed. Induced mutation is one of the breeding methods utilized worldwide to supplement conventional breeding for developing superior varieties with desirable traits in different crops. Development of high yielding, drought tolerant, and dwarf sorghums with early maturity enables effective utilization of available soils moisture and in optimizing plant density for achieving higher yield in farmers’ fields. Recombination breeding through exploitation of natural genetic variability and mutation breeding to reduce the plant height without disturbing agronomic superiority of elite lines is recommended for sorghum improvement in Namibia.

A new era of mutation rate analyses: Concepts and methods

The mutation rate is a pivotal biological characteristic,intricately governed by natural selection and historically garnering considerable attention.Recent advances in high-throughput sequencing and analytical methodologies have profoundly transformed our understanding in this domain,ushering in an unprecedented era of mutation rate research.This paper aims to provide a comprehensive overview of the key concepts and methodologies frequently employed in the study of mutation rates.It examines various types of mutations,explores the evolutionary dynamics and associated theories,and synthesizes both classical and contemporary hypotheses.Furthermore,this review comprehensively explores recent advances in understanding germline and somatic mutations in animals and offers an overview of experimental methodologies,mutational patterns,molecular mechanisms,and driving forces influencing variations in mutation rates across species and tissues.Finally,it proposes several potential research directions and pressing questions for future investigations.

RESEARCH PROGRESS ON SPACE MUTATION BREEDING OF CROPS IN CHINA

Mutagenic breeding has been carried out in China since 1986 by on boarding the crop seeds in recoverable satellite and balloon. Good results have been obtained. Some new crop lines with high-yield, good-quantity, disease resistant characters were obtained respectively.

A Study of Mutation Breeding of High-Yielding Tryptophanase Escherichia coli by Low-Energy N^+ Ion Beam Implantation

Low energy ion beam has been widely applied in microbe breeding, plant breeding, gene transfer and cell modification. In this study, the Escherichia coli （E.coli） strain producing tryptophanase was irradiated by a low energy nitrogen ion beam with an energy of 10 keV at a fluence of 13 × 10^14 N^＋/cm^2 when glycerin at a 15% concentration was used as a protector. The effect on the biomass of E. coli after N^＋ implantation was analyzed in detail by statistic methods. The screening methods used in this study were proven to be effective. After continuous mutagenicity, a high-yield tryptophanase strain was selected and both its biomass and enzymatic activity were higher than those of the parent strain. The results of scale-up production showed that the biomass could reach wet weight 8.2 g/L and 110 g L-tryptophan could be formed in the volume of the 1 l enzymatic reaction system.

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family

●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.

Corrigendum to“Migration pattern of a population of Barn Swallows(Hirundo rustica)breeding in East Asian tropical region”[Avian Res.15(2024)100192]

The authors regret that the caption of Fig.4 should be replaced as below.

Mutation Breeding of an Organic Phosphorus-Solubilizing Bacterium B3 by Low Energy Ion Beam Implantation

A preliminary study on the mutation breeding of an organic phosphorus-solubilizing bacterium B3 by low-energy N^＋ ion beam was conducted. Analysis of dosage vs. survival rate and mutation rate showed that the dosage of 3×10^15 ions/cm^2 was optimal for the mutation. Some parameters for determining the efficient phosphorus content were studied to simplify the protocols for screening. Ultimately one reliable mutant was screened out under plating and flask-culturing screening conditions. Importantly, a novel phosphorus-dissolving mechanism is reported for the first time in terms of bio-surfactant production, which indicates that bio-surfactant might play a vital role in phosphorus-dissolving for some phosphobacteria.

Creating large EMS populations for functional genomics and breeding in wheat

Wheat germplasm is a fundamental resource for basic research,applied studies,and wheat breeding,which can be enriched normally by several paths,such as collecting natural lines,accumulating breeding lines,and introducing mutagenesis materials.Ethyl methane sulfonate(EMS)is an alkylating agent that can effectively introduce genetic variations in a wide variety of plant species.In this study,we created a million-scale EMS population(MEP)that started with the Chinese wheat cultivars‘Luyan 128’,‘Jimai 38’,‘Jimai 44’,and‘Shannong 30’.In the M1 generation,the MEP had numerous phenotypical variations,such as>3,000 chlorophyll-deficient mutants,2,519 compact spikes,and 1,692 male sterile spikes.There were also rare mutations,including 30 independent tillers each with double heads.Some M1 variations of chlorophyll-deficiency and compact spikes were inheritable,appearing in the M2 or M3 generations.To advance the entire MEP to higher generations,we adopted a single-seed descendent(SSD)approach.All other seed composites of M2 were used to screen other agronomically important traits,such as the tolerance to herbicide quizalofop-P-methyl.The MEP is available for collaborative projects,and provides a valuable toolbox for wheat genetics and breeding for sustainable agriculture.

3-30 Mutation Breeding of Wheat Irradiated by Carbon Ions Beams

Heavy ion beams are generally recognized as one of powerful mutagens in plant breeding to generate new mutantswith ideal or useful agronomic characters[1]. 12C6+ ion beams (80 MeV/u) accelerated by Heavy Ion Research Facilityin Lanzhou (HIRFL) were used to irradiate wheat samples, one of the major wheat varieties in Qinghai province,named Gaoyuan448. The radiation doses ranged from 10 to 200 Gy. The irradiated samples, controls, and anothermajor wheat variety named Abo were planted in farm locating in Ledu county of Qinghai province in 2014.

3-28 Progress on Mutation Breeding Induced by Heavy Ion Beams and Planting Sweet Sorghum

During the past year, biophysics group at Institute of Modern Physics (IMP) obtained lots of achievements in theresearch of heavy-ion mutation breeding and production chain of sweet sorghum. In fundamental research field, amutant population of Arabidopsis thaliana induced by carbon ion beam radiation was established in M2 generation.The total mutation rate was 4.77%. A mutant marked 197#, which had frostbite-like, pale green, wrinkled anduneven leaves and displayed loose bracts and late maturation, was obtained and reported for the first time. Generough mapping results demonstrated that there were two mutation sites in the 1st and 4th chromosome of 197#mutant, indicating heavy ion radiation might induce more complicated mutations beyond our current recognition.The whole genome resequencing of this mutant is still in progress. In addition, high-yield strains of microbeswhich have potential value for commercial application, such as Corynebacterium glutamicum and Lacbobacillusthermophiles, were screened using heavy-ion mutation technique.

Rice Heat Tolerance Breeding: A Comprehensive Review and Forward Gaze

The yield potential of rice is seriously affected by heat stress due to climate change. Since rice is a staple food globally, it is imperative to develop heat-resistant rice varieties. Thus, a thorough understanding of the complex molecular mechanisms underlying heat tolerance and the impact of high temperatures on various critical stages of the crop is needed. Adoption of both conventional and innovative breeding strategies offers a long-term advantage over other methods, such as agronomic practices, to counter heat stress. In this review, we summarize the effects of heat stress, regulatory pathways for heat tolerance, phenotyping strategies, and various breeding methods available for developing heat-tolerant rice. We offer perspectives and knowledge to guide future research endeavors aimed at enhancing the ability of rice to withstand heat stress and ultimately benefit humanity.

Mutation in the Agrobacterium his I gene enhances transient expression in pepper

Agrobacterium-mediated plant transformation is widely used in plant genetic engineering.However,its efficiency is limited by plant immunity against Agrobacterium.Chili pepper(Capsicum annuum L.)is an important vegetable that is recalcitrant to Agrobacterium-mediated transformation.In this work,Agrobacterium was found to induce a strong immune response in pepper,which might be the reason for T-DNA being difficult to express in pepper.An Agrobacterium mutant screen was conducted and a point mutation in the hisI gene was identified due to a weak immune response and enhanced transient expression mediated by this Agrobacterium mutant in pepper leaves.Further genetic analysis revealed that histidine biosynthesis deficiency caused by mutations in many genes of this pathway led to reduced pepper cell death,presumably due to reduced bacterial growth.However,mutation analysis of threonine and tryptophan biosynthesis genes showed that the biosynthesis of different amino acids may play different roles in Agrobacterium growth and stimulating the pepper immune response.The possible application of Agrobacterium amino acid biosynthesis mutations in plant biology was discussed.

Mutational landscape of TP53 and CDH1 in gastric cancer

In this editorial we comment on an article published in a recent issue of the World J Gastrointest Surg.A common gene mutation in gastric cancer(GC)is the TP53 mutation.As a tumor suppressor gene,TP53 is implicated in more than half of all tumor occurrences.TP53 gene mutations in GC tissue may be related with clinical pathological aspects.The TP53 mutation arose late in the progression of GC and aided in the final switch to malignancy.CDH1 encodes E-cadherin,which is involved in cell-to-cell adhesion,epithelial structure maintenance,cell polarity,differentiation,and intracellular signaling pathway modulation.CDH1 mutations and functional loss can result in diffuse GC,and CDH1 mutations can serve as independent prognostic indicators for poor prognosis.GC patients can benefit from genetic counseling and testing for CDH1 mutations.Demethylation therapy may assist to postpone the onset and progression of GC.The investigation of TP53 and CDH1 gene mutations in GC allows for the investigation of the relationship between these two gene mutations,as well as providing some basis for evaluating the prognosis of GC patients.

C634Y mutation in RET-induced multiple endocrine neoplasia type 2A:A case report

BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.