Recessive Character Research Articles

Species Identification of Rehabilitated Critically Endangered Orangutans Through DNA Forensic: Implication for Conservation.

Rehabilitating and releasing orangutans back into the wild is one of the conservation strategies being pursued to conserve orangutans. However, the species determination between Sumatran, Tapanuli, and Bornean orangutans is essential for reintroduction to avoid outbreeding depression, which could lead to DNA hybridisation and increase the probability of recessive characters. Here, we reported on an investigation of three orangutans in which DNA forensic techniques were used to identify the species before release and reintroduction to their habitat. By applying DNA forensic, the orangutan was successfully confirmed with high probabilities (100%) by identifying two orangutan species, Pongo abelii and Pongo pygmaeus wurmbii. Based on ambiguous morphology, we found the possibility of orangutan species being misidentified in rehabilitation. This case report demonstrates the importance of molecular diagnostics to identify the orangutan species. We also provide workflow recommendations from genetic aspect for rehabilitated orangutans. These recommendations will enable decision-makers to consider genetics when assessing future management decisions, which will help ensure that the orangutan species is effectively conserved.

The dominant findings of a recessive man: from Mendel’s kid pea to kidney

The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms “dominant” and “recessive” characters and determined their 3:1 ratio in the offspring of heterozygous “hybrid” plants. This distribution allowed calculation of the number of the phenotype-determining “elements,” i.e., the alleles, and has been used ever since to prove the monogenic origin of a disorder. The Mendelian inheritance of monogenic kidney disorders is still of great help in distinguishing them from those with multifactorial origin in clinical practice. Inheritance of most monogenic kidney disorders fits to Mendel’s observations: the equal contribution of the two parents and the complete penetrance or the direct correlation between the frequency of the recessive character and the degree of inbreeding. Nevertheless, beyond the truth of these basic concepts, several observations have expanded their genetic characteristics. The extreme genetic heterogeneity, the pleiotropy of the causal genes and the role of modifiers in ciliopathies, the digenic inheritance and parental imprinting in some tubulopathies, and the incomplete penetrance and eventual interallelic interactions in podocytopathies, reflect this expansion. For all these reasons, the transmission pattern in a natural setting may depend not only on the “character” but also on the causal gene and the variant. Mendel’s passion for research combined with his modest personality and meticulous approach can still serve as an example in the work required to understand the non-Mendelian universe of genetics.

Untargeted Lipidomic Approach for Studying Different Nervous System Tissues of the Murine Model of Krabbe Disease.

Krabbe disease is a rare neurodegenerative disease with an autosomal recessive character caused by a mutation in the GALC gene. The mutation leads to an accumulation of psychosine and a subsequent degeneration of oligodendrocytes and Schwann cells. Psychosine is the main biomarker of the disease. The Twitcher mouse is the most commonly used animal model to study Krabbe disease. Although there are many references to this model in the literature, the lipidomic study of nervous system tissues in the Twitcher model has received little attention. This study focuses on the comparison of the lipid profiles of four nervous system tissues (brain, cerebellum, spinal cord, and sciatic nerve) in the Twitcher mouse compared to the wild-type mouse. Altogether, approximately 230 molecular species belonging to 19 lipid classes were annotated and quantified. A comparison at the levels of class, molecular species, and lipid building blocks showed significant differences between the two groups, particularly in the sciatic nerve. The in-depth study of the lipid phenotype made it possible to hypothesize the genes and enzymes involved in the changes. The integration of metabolic data with genetic data may be useful from a systems biology perspective to gain a better understanding of the molecular basis of the disease.

Cystic Fibrosis

Cystic fibrosis is the most common, life-threatening hereditary disease in children. It is transmitted by recessive somatic character affecting the exocrine glands. The disease causes abnormal ion transport in the epithelial tissues, causing dehydration, making mucus thick and sticky, causing mechanical obstruction in the pores and glands. The organs. The severity of the disease varies. Although an increased survival rate has been achieved in recent years, death is the final result as progressive pulmonary complications occur, which pose a serious threat to the child’s life. As the disease is chronic hospitalizations can be frequent.

Molecular, biochemical and micromorphological responses of cacao seedlings of the Parinari series, carrying the lethal gene Luteus-Pa, in the presence and absence of cotyledons

Investigations of the compatibility between cacao genotypes of the population of the Parinari series (Pa), resulting from the reciprocal crossing of Pa 30 × Pa 169 and Pa 121 × Pa 169, allowed the verification of the occurrence of the recessive lethal single character called Luteus-Pa. These genotypes have this gene in heterozygosity, which when intercross or self-fertilize, segregate in a 3:1 ratio. Normal (NS) and mutant (MS) seedlings grow normally and, after a period of approximately 30 days of age, MS leaves begin to show a metallic yellow color, followed by necrotic spots, and death of the entire seedling, approximately 40 days after the emergency. The work evaluate the molecular, biochemical and micromorphological responses in NS and MS, with and without cotyledons, resulting from the crossing of the Pa 30 × Pa 169 cacao genotypes, aiming to elucidate the possible lethal mechanisms of the homozygous recessive Luteus-Pa. The presence of the lethal gene Luteus-Pa in the seedlings of the cacao genotypes of the population of the Parinari (Pa), with and without cotyledons, resulting from the crossing of Pa 30 × Pa 169, in addition to regulating the synthesis of proteins related to the photosynthetic and stress defense processes, promoted an increase in the synthesis of proteins involved in the glycolic pathway, induced oxidative stress, altered the mobilization of cotyledonary reserves, the integrity of cell membranes, leaf micromorphology and induced the death of seedlings, soon after depletion of protein and carbohydrate reserves, especially in the absence of cotyledons.

First detection of resistance to deltamethrin in Spanish populations of the Mediterranean fruit fly, Ceratitis capitata

The control of the Mediterranean fruit fly (Medfly), Ceratitis capitata, in citrus orchards in Spain is mainly based in three insecticides (spinosad, lambda-cyhalothrin and deltamethrin) and the liberation of sterile males. However, Medfly control is compromised by the development of lambda-cyhalothrin resistance and the detection of spinosad-resistant alleles in field populations. We report here, for the first time, resistance to deltamethrin in populations collected in fields under different management strategies, including MagnetMed™ traps coated with this insecticide and/or spinosad and lambda-cyhalothrin used as bait sprays, and even in populations obtained from non-treated fields. Two deltamethrin-resistant strains (BP-delta and Rfg-delta) were generated from the descendants of some of the field populations that showed lower susceptibility to deltamethrin. Both strains showed low susceptibility to MagnetMed™ traps, moderate susceptibility to Ceratipack traps, and lacked cross-resistance to spinosad and lambda cyhalothrin. Our data suggest that deltamethrin resistance was mediated by P450 enzymes, since bioassays with synergists showed that PBO reverted resistance in a field population and the laboratory strains, whereas the effect of DEF and DEM was minor and no mutations were found in the VGSC gene. The inheritance of resistance for both strains was completely recessive, autosomic and did not fit the mortality expected for a recessive character under a monogenic or digenic model. We also found that deltamethrin resistance presented a fitness cost in terms of males’ weight, males’ and females’ longevity and lifetime fecundity, with a more pronounced effect in the BP-strain than in the Rfg-delta strain. Our results highlight the need to implement insecticide resistance management strategies to prevent control failures.

A PRELIMINARY SURVEY OF HUMAN MORPHOGENETIC TRAITS WITH SIMPLE INHERITANCE PATTERNS IN GRADUATE STUDENTS OF SKR AND SKR GOVERNMENT COLLEGE FOR WOMEN, KADAPA, ANDHRA PRADESH, INDIA

Many factors such as gene flow, genetic drift, migration, natural selection and temporal variation are responsible for the genetic variation in humans. The present pilot study was conducted to screen a random population of 194 female Indian graduate students for 13 different morphogenetic traits i.e., tongue rolling, tongue folding, polydactyly, hitchhiker's thumb, bent little finger, widow's peak, cleft chin, dimpled cheeks, mid-phalangeal hair, earlobe attachment, crossing of arms, right handedness and arched foot through questionnaires and datasheets. The prevalence of these morphogenetic traits was observed as dominant traits such as tongue rolling ability (75.3%) and tongue folding ability (96.4%), single-jointed hitchhiker’s thumb (76.3%), straight little finger (93.3%), free ear lobe (62.4%), arched foot (88.7%), right handedness (99%), right arm crossing over left arm (99.5%) etc. are expressed more recurrently in the population. However, recessive characters like absence of polydactyly (97.9%), absence of dimples (87.6%), absence of widow’s peak (77.8%), round chin (87.1%), absence of mid-phalangeal hair (77.1%), etc. are expressed more commonly in the population. We analyzed whether a trait is dominant or recessive. The survey result shows a disparity of this argument, it shows that some typical dominant character was not expressed but the expression of recessive character was prevalent as in the case of widow’s peak (absent), smooth chin, crossing of arms (right over left), Hitchhiker’s thumb (absent), absence of dimple, etc, all of which are recessive traits. Outcomes of this study can be suitable for many types of anthropological, medicolegal and population genetics studies.

SOCIODEMOGRAPHIC AND PHENOTYPIC CHARACTERISTICS AND RELATIONSHIP IN THE TEACHING OF GENETICS

The study evaluated the relationship of sociodemographic and phenotypic characters in relation to recessive and dominant factors of Mendelism in a population of students from a higher education institution. The teaching of genetics became co-responsible for explaining characteristics in individuals and for correlating the genetic mechanisms of heredity. The use of recreational activities, using the application of a perception form, promotes the implementation of observations of the expression of the genetic characters of individuals, allowing the identification of genotypes, giving students the ability to self-recognise inherited genes. Data collection took place in 2020, the students followed a script in order to observe certain characteristics such as: gender, ear lobe, eye color, skin color, hair type, anatomy of the lips and ability to curl the tongue, the study followed Resolutions 466/2012 and 510/2016. As a result, it was possible to explain the difference between recessive and dominant genes among students, in addition to stimulating learning, 21 students participated, (15), 71% were women and (06), 29% were men, 11 of the family members had the complete high school, 9 had no descendants; 13 had no knowledge of genetics. The dominant characters found were curly hair, thick lips and loose ear lobes, all of them are right-handed, represented by 16 of the 21 interviewees and as recessive characters only 01 had freckles on the face and 06 of the 21 had baldness. Playful activities in the teaching of genetics, such as perception forms, turn abstract concepts into practical experiences when they can be experienced.

Large Aromatic Hydrocarbon Radical Cation with Global Aromaticity and State-Associated Magnetic Activity

The stable radical cation of large aromatic hydrocarbons remains a challenge, due to the recessive aromatic character and high reactivity. Here we report the design, synthesis, and characterization...

Presence of the topic Xeroderma Pigmentoso in scientific articles published between 2003 and 2018

Xeroderma pigmentosum (XP) is a rare genetic disease, of autosomal and recessive character, and may affect both sexes, regardless of race, and often one case per 250,000 people. This disease has several other symptoms that present themselves heterogeneously over its carriers. The aim of this article was to quantitatively analyze the presence of the topic Xeroderma pigmentoso in scientific articles published between 2003 and 2018. In the identification, a total of 674 results were obtained. The follow-up of the following steps allowed, in the end, the selection of 24 papers. Regarding the language, most of the selected papers were written in Portuguese (around 58.33%), the rest in English (around 41.67%). The highest publication rates occurred between 2015 and 2017 (13%). The years 2007, 2007, 2011, 2014 and 2018 presented intermediate rates (9%) and the lowest rates (4%) occurred in 2003, 2008, 2010 and 2012, and 75% papers were published/presented in the 2nd decade of the 21st century, while the others (25%) were in the 1st decade of the 21st century. The findings of this study showed that there are few scientific studies on XP because it is a rare disease, which possibly leads to few investments in this area, especially with regard to treatment and medications.

THE BREEDING PROGRAM OF SEEDLESS GRAPES, THE EXISTING PROBLEMS IN REPUBLIC AND A PROSPECTS OF INTRODUCING THE GEN TECHNOLOGIES

This article discusses problems in the breeding programs of the seedless grapes, the way of introducing of the biotechnology and gene technology skills to resolve its issues, and the advantages of molecular markers to select seedlessness among the hybrid progeny of grapes. Uzbekistan is famous for its seedless grapes, but on the other hand, the grape breeding is oriented on the conventional breeding method. In other words, seedless grapes have a recessive character, a male form is using only as a pollinator, and all these factors limit to create new seedless varieties and forms. Nowadays the word grape breeders, especially seedless grape breeders use advantages of the biotechnology and gene technology skills to resolve above listed issues. As a result, except for obtaining hybrid progeny by crossing between ♂seedless × seeded ♀ that was an unchangeable algorithm of the cross combination in the traditional grape breeding. But today, researchers argued that crossing between ♂seedless × seedless ♀ is also possible to obtain a hybrid progeny through “embryo rescue technique”. Thus introducing this novel breeding program directly to grape breeding of Uzbekistan leads to an increase the diversity of the new seedless grape varieties and also for increasing the export potential of the grape industry. KEYWORDS: Seedless grape varieties, variety, cross combination, embryo culture, molecular markers, DNA.

Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a type of leukodystrophy characterized by white matter edema, and it is caused mainly by recessive mutations in MLC1 and GLIALCAM genes. These variants are called MLC1 and MLC2A with both types of patients sharing the same clinical phenotype. In addition, dominant mutations in GLIALCAM have also been identified in a subtype of MLC patients with a remitting phenotype. This variant has been named MLC2B. GLIALCAM encodes for an adhesion protein containing two immunoglobulin (Ig) domains and it is needed for MLC1 targeting to astrocyte–astrocyte junctions. Most mutations identified in GLIALCAM abolish GlialCAM targeting to junctions. However, it is unclear why some mutations behave as recessive or dominant. Here, we used a combination of biochemistry methods with a new developed anti-GlialCAM nanobody, double-mutants and cysteine cross-links experiments, together with computer docking, to create a structural model of GlialCAM homo-interactions. Using this model, we suggest that dominant mutations affect different GlialCAM–GlialCAM interacting surfaces in the first Ig domain, which can occur between GlialCAM molecules present in the same cell (cis) or present in neighbouring cells (trans). Our results provide a framework that can be used to understand the molecular basis of pathogenesis of all identified GLIALCAM mutations.

Crigler najjar syndrome: A systematic outline

Crigler-Najjar Syndrome (CNS) is a rare genetic condition characterized by non-hemolytic unconjugated hyperbilirubinemia. It is caused by mutations in the UGT1A1 gene which codes for the enzyme uridine diphosphate glucoronosyl transferase-1, required for the conjugation and further elimination of bilirubin from the body. Affected individuals are usually asymptomatic apart from the jaundice and investigations reveal isolated indirect hyperbilirubinemia. It can be conveniently diagnosed by evaluating the response to phenobarbital in terms of decrease in bilirubin levels. Genetic testing of the UGT1A1 gene for mutations is the investigative clincher. The hallmark outcome of Crigler-Najjar syndrome is a determined yellowing of the skin, mucous membranes and the sclera of eye. There are two patterns of this disorder: Crigler-Najjar syndrome type I, characterized by a nearly complete lack of enzyme activity and severe symptoms; and Crigler-Najjar syndrome type II, characterized by inadequate enzyme activity and milder symptoms. Both forms are inherited as autosomal recessive characters and are caused by faults or mutations of the UGT1A1 gene. Treatment is engaged toward dropping the level of unconjugated bilirubin in the blood. Early treatment is vibrant in Crigler-Najjar syndrome type I to prevent the development of encephalopathy during the first few months of life. Because Crigler-Najjar syndrome type II is milder and responds to phenobarbital, treatment is different. The purpose of the current review article is to emphasize on causes, types, clinical symptoms, autosomal pattern, complications, management and future direction for treatment of Crigler-Najjar syndrome. Keywords: Hyperbilirubinemia, Phenobarbitone, UGT1A1 gene, Bilirubin, Jaundice, Mutations

A brown Adélie Penguin Pygoscelis adeliae breeding at King George Island, Maritime Antarctica

Plumage aberrations are rare in penguin species. Tracking their occurrence is helpful to understand the effects of these phenotypes on the life history of penguins, especially on mating, breeding, and foraging success. We registered a brown Adelie Penguin Pygoscelis adeliae at Turret Point, King George Island, Maritime Antarctica, during the middle of the 2017/2018 breeding season. The individual was brooding one chick in a nest located in the center of the colony and its partner was by its side. Both chick and partner showed normal plumage, reaffirming the recessive character of brown mutations. A breeding aberrant bird nesting in the center of the colony indicates that the brown coloration does not seem to affect mate selection, but we could not verify if it affects breeding success. This is the third published record for Adelie Penguins following a gap of 40 years. We stress, however, that possible misclassifications of brown aberrations in literature might be causing an underestimation of its occurrence rate in bird populations.

Does the blindness affect the behavioural activities of rabbit?

Blindness is a condition characterized by the limited or complete loss of a rabbit's eyesight. Rare is known about its effect on behavioural activities of rabbit. The aim of this study was to investigate the effect of genetically blindness on some behavioural activities of V-line rabbits and its reflexion on productive performance. Behavioural comparison between the normal and the blind rabbits was carried out to study this effect. The results demonstrate that it was no significant effect of blindness on feeding, drinking, waking, nervousness, sexual desire and maternal care of rabbits. Accordingly, there are no significant differences on body weight (weaning - marketing), litter size and milk yield between the normal and the blind rabbits. Blindness is a recessive character. Rabbits depend primarily on smell and hearing senses. The blind rabbits can adapt its live well and have a wonderful life.

Porfirias agudas: enfoque diagnóstico y terapéutico

The acute porphyrias are rare congenital disorders due to alterations in the enzymes of the haem biosynthesis. These enzymopathies can be autosomal dominant in character, such as, acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and autosomal recessive character (ALA dehydratase deficiency porphyria). Porphyrias have traditionally been classified as hepatic or erythropoietic depending on the primary site of overproduction. The clinical importance of these types of diseases in emergency department and intensive care units lies mainly in the so-called acute porphyria attack, mainly the acute attack of acute intermittent porphyria. Acute intermittent porphyria is characterised by a series of signs and symptoms that are not specific to this disease, with acute abdominal pain still being the main symptom of presentation. We should be aware of the precipitating factors of acute attacks due to their high morbidity and mortality. Making a quick and timely diagnosis is of vital importance, using qualitative and quantitative tests such as PBG (Porphobilinogen) and ALA (aminolevulinic acid). The treatment is mainly based on avoid precipitating factors, immediately starting intravenous therapy with derived haematin products (Normosang®, Orphan Europe SARL, Puteaux, France), and in North America as lyophilised haematin (Panhematin®, Ovation Pharmaceuticals Inc., Deerfield, IL, USA), and the management of complications with different drugs approved for their treatment. The prognosis is good if the condition is diagnosed early and treated aggressively.

Implementasi Pengaturan Karakter, Fisik dan Jenis Kelamin Janin (dalam Kajian Tradisi, Sains dan Islam)

Considering each cell between the reproductive cells contain half the amount contained in the cell body and assigned to him, the existence of post-law partner is one sign of the greatness of God in creating his creatures. This is due to the merging of both male and female reproductive cells to form the zygote, then fulfilled the specified number of chromosomes to the human species, creating diversity in character between both parents and children are increasingly enrich life and make it more alive. This diversity also prove absolusitas power of God that is designing such a process that occurs in the zygote so out of humans, animals, plants as new creatures like its predecessor in several different characters and in some other characters. In humans each body cell contains 46 chromosomes arranged in 23 pairs that are similar in terms of shape, but different in terms of structure and gene carried by each chromosome. The amount of raw character (fixed) in the cells of male and female, although there are differences in the chromosomes specified for sex. Male body cell contains 44 chromosomes, plus two chromosomes of sex are not similar, because one of them labeled masculine (Y), and the other is labeled feminine (X). with the same composition, a woman's body cells contain 44 chromosomes, in addition to the two chromosomes of sex, but they both feminism (X, X). With this process, each human character has a pair of genes, one derived from the father and predecessor, while the other comes from the mother and predecessor. Gen stronger will dominate, and the character of this gene is hereinafter referred to as the dominant character. Being weaker genes will disappear and step aside for a while to appear again later in the next generation. Therefore, the character who brought termed recessive character. Thus, the character of the child may be different from the character of his brothers, or parents or predecessors.

Splicing mutation in Sbf1 causes nonsyndromic male infertility in the rat

In the inbred SHR/OlaIpcv rat colony, we identified males with small testicles and inability to reproduce. By selectively breeding their parents, we revealed the infertility to segregate as an autosomal recessive Mendelian character. No other phenotype was observed in males, and females were completely normal. By linkage using a backcross with Brown Norway strain, we mapped the locus to a 1.2Mbp segment on chromosome 7, harboring 35 genes. Sequencing of candidate genes revealed a G to A substitution in a canonical 'AG' splice site of intron 37 in Sbf1 (SET binding factor 1, alias myotubularin-related protein 5). This leads to either skipping exon 38 or shifting splicing one base downstream, invariantly resulting in frameshift, premature stop codon and truncation of the protein. Western blotting using two anti-Sbf1 antibodies revealed absence of the full-length protein in the mutant testis. Testicles of the mutant males were significantly smaller compared with SHR from 4weeks, peaked at 84% wild-type weight at 6weeks and declined afterward to 28%, reflecting massive germ cell loss. Histological examination revealed lower germ cell number; latest observed germ cell stage were round spermatids, resulting in the absence of sperm in the epididymis (azoospermia). SBF1 is a member of a phosphatase family lacking the catalytical activity. It probably modulates the activity of a phosphoinositol phosphatase MTMR2. Human homozygotes or compound heterozygotes for missense SBF1 mutations exhibit Charcot-Marie-Tooth disease (manifested mainly as progressive neuropathy), while a single mouse knockout reported in the literature identified male infertility as the only phenotype manifestation.

Differential expression of the lethal gene Luteus-Pa in cacao of the Parinari series.

The recessive lethal character Luteus-Pa is found in cacao (Theobroma cacao) genotypes of the Parinari series (Pa) and is characterized by expression of leaf chlorosis and seedling death. Several genotypes of the Pa series are bearers of the gene responsible for the expression of the Luteus-Pa character, which can be used as a tool for determining relationships between genotypes of this group. To evaluate this phenomenon, we analyzed the differential expression of genes between mutant seedlings and wild-type hybrid Pa 30 x 169 seedlings, with the aim of elucidating the possible lethal mechanisms of the homozygous recessive character Luteus-Pa. Plant material was harvested from leaves of wild and mutant seedlings at different periods to construct a subtractive library and perform quantitative analysis using real-time PCR. The 649 sequences obtained from the subtractive library had an average length of 500 bp, forming 409 contigs. The probable proteins encoded were grouped into 10 functional categories. Data from ESTs identified genes associated with Rubisco, peroxidases, and other proteins and enzymes related to carbon assimilation, respiration, and photosystem 2. Mutant seedlings were characterized by synthesizing defective PsbO and PsbA proteins, which were overexpressed from 15 to 20 days after seedling emergence.

Jak poznaniacy oceniają obecność germanizmów w swojej gwarze?

The article presented and interpreted results of the survey. More precisely – the answers given by respondents three questions, which were: “What do you think about the presence of German loanwords in the Poznan dialect? Is it a lot of them? Are they still alive?”. The survey covered 120 people from Poznan (and Wielkopolska, but at least 20 years of living in the city), representing three age groups. It turned out that most of the inhabitants of Poznan has a positive attitude towards the German loanwords present in their dialect. They note their recessive character of the cross-generational. They admit, however – and this regardless of age – that there are still a lot. Most of the respondents are aware of the limitations of pragmatic and communication accompanying the use of regional German loanwords. Today the influence German into Polish no longer raises such negative connotations as before, so the evaluation of regional German loanwords is more objective.