scholarly journals Genetic Color Polymorphism of the Whitelined Sphinx Moth larva (Lepidoptera: Sphingidae)

2020 ◽  
Vol 20 (4) ◽  
Author(s):  
C L Francois ◽  
G Davidowitz

Abstract For a trait to be considered polymorphic, it must fulfill both genetic and ecological criteria. Genetically, a polymorphic trait must have multiple heritable variants, potentially from the same female, in high-enough frequency as to not be due to mutation. Ecologically, in a single wild population, these variants must co-occur, and be capable of interbreeding. Polymorphism is frequently considered in the context of either geographical cause or genetic consequence. However, the incorporation of both in a single study can facilitate our understanding of the role that polymorphism may play in speciation. Here, we ask if the two color morphs (green and yellow) exhibited by larvae of the whitelined sphinx moth, Hyles lineata (Fabricius), co-occur in wild populations, in what frequencies, and whether they are genetically determined. Upon confirmation from field surveys that the two color morphs do co-occur in wild populations, we determined heritability. We conducted a series of outcrosses, intercrosses and backcrosses using individuals that had exhibited yellow or green as laboratory-reared larvae. Ratios of yellow:green color distribution from each familial cross were then compared with ratios one would expect from a single gene, yellow-recessive model using a two-sided binomial exact test. The offspring from several crosses indicate that the yellow and green coloration is a genetic polymorphism, primarily controlled by one gene in a single-locus, two-allele Mendelian-inheritance pattern. Results further suggest that while one gene primarily controls color, there may be several modifier genes interacting with it.

Author(s):  
Bianca Ethel Gutiérrez-Amavizca ◽  
Ernesto Prado Montes de Oca ◽  
Jaime Paul Gutiérrez-Amavizca ◽  
Oscar David Castro ◽  
Cesar Heriberto Ruíz-Marquez ◽  
...  

The aim of this pilot study was to determine the association of the P10L (rs2675703) polymorphism of the OPN4 gene with chronic insomnia in uncertain etiology in a Mexican population. A case control study was performed including 98 healthy subjects and 29 individuals with chronic insomnia not related to mental disorders, medical condition, medication or substance abuse. Samples were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genetic analyses showed that the T allele of P10L increased risk to chronic insomnia in a dominant model (p = 1 ×10−4; odds ratio (OR) = 9.37, CI = 8.18–335.66, Kelsey statistical power (KSP) = 99.9%), and in a recessive model (p = 7.5 × 10−5, OR = 9.37, KSP = 99.3%, CI = 2.7–34.29). In the insomnia group, we did not find a correlation between genotypes and chronotype (p = 0.219 Fisher’s exact test), severity of chronic insomnia using ISI score (p = 0.082 Fisher’s exact test) and ESS score (p ˃ 0.999 Fisher’s exact test). However, evening chronotype was correlated to daytime sleepiness severity, individuals with an eveningness chronotype had more severe drowsiness according to their insomnia severity index (ISI) score (p = 0.021 Fisher’s exact test) and Epworth sleepiness scale (ESS) score (p = 0.015 Fisher’s exact test) than the morningness and intermediate chronotype. We demonstrated that the T allele of the P10L polymorphism in the OPN4 gene is associated with chronic insomnia in Mexicans. We suggest the need to conduct larger studies in different ethnic populations to test the probable association and function of P10L and other SNPs in the OPN4 gene and in the onset of chronic insomnia.


Author(s):  
Max Robinson ◽  
Keith Hunter ◽  
Michael Pemberton ◽  
Philip Sloan

A wide variety of processes can affect the formation of teeth during development. The number, size, shape, and quality of dental hard tis­sue may be abnormal and teeth may erupt early or be prematurely shed or resorbed. When a child presents with a tooth abnormality, the clin­ical and radiographic features are often distinctive and management depends on diagnosis (Box 5.1). Broadly, developmental abnormal­ities of the teeth can be either genetically determined or acquired as a result of injurious processes affecting the developing teeth. It can be problematic to make a diagnosis, particularly when teeth initially erupt. Sometimes pathological examination of a shed or extracted tooth by ground sectioning (for enamel) or conventional sectioning of a decalci­fied tooth can provide a diagnosis. Research has provided insights into the genetic and structural basis of dental anomalies, and has resulted in a complex and extensive classification of subtypes. Minor abnormal­ities, such as failure of development of a few teeth or enamel erosion in adult life, may be dealt with in general dental practice, but it is advisable to refer younger patients with more complex or extensive dental abnor­malities to a specialist in child dental health, with links to expert diag­nostic facilities and input from orthodontic and restorative colleagues. The publically available Online Mendelian Inheritance in Man (OMIM) database provides an invaluable resource for genetic disorders, including dental abnormalities. Supernumerary teeth are common and may be rudimentary in form or of normal morphology, when they are referred to as supplemental teeth. The most common supernumerary tooth occurs in the mid- line of the maxillary alveolus and is referred to as a mesiodens, which usually has a conical shape. Eruption of adjacent normal successor teeth may be impeded by a mesiodens, which is an indication for its removal. Most supernumerary teeth occur as a sporadic event in devel­opment, but multiple extra teeth can be found in certain developmen­tal disorders. Failure of development of tooth germs results in teeth missing from the dental arch and is referred to as hypodontia. Most often the missing teeth are third molars, second premolars, and upper lateral incisors. Hypodontia is more common in the permanent dentition than in the primary teeth.


2016 ◽  
Vol 78 (1) ◽  
pp. 15-21 ◽  
Author(s):  
Madelene Loftin ◽  
Kelly East ◽  
Adam Hott ◽  
Neil Lamb

Life science classrooms often emphasize the exception to the rule when it comes to teaching genetics, focusing heavily on rare single-gene and Mendelian traits. By contrast, the vast majority of human traits and diseases are caused by more complicated interactions between genetic and environmental factors. Research indicates that students have a deterministic view of genetics, generalize Mendelian inheritance patterns to all traits, and have unrealistic expectations of genetic technologies. The challenge lies in how to help students analyze complex disease risk with a lack of curriculum materials. Providing open access to both content resources and an engaging storyline can be achieved using a “serious game” model. “Touching Triton” was developed as a serious game in which students are asked to analyze data from a medical record, family history, and genomic report in order to develop an overall lifetime risk estimate of six common, complex diseases. Evaluation of student performance shows significant learning gains in key content areas along with a high level of engagement.


Blood ◽  
2008 ◽  
Vol 111 (7) ◽  
pp. 3872-3879 ◽  
Author(s):  
Liming Chang Milbauer ◽  
Peng Wei ◽  
Judy Enenstein ◽  
Aixiang Jiang ◽  
Cheryl A. Hillery ◽  
...  

Abstract Genetic differences in endothelial biology could underlie development of phenotypic heterogeneity among persons afflicted with vascular diseases. We obtained blood outgrowth endothelial cells from 20 subjects with sickle cell anemia (age, 4-19 years) shown to be either at-risk (n = 11) or not-at-risk (n = 9) for ischemic stroke because of, respectively, having or not having occlusive disease at the circle of Willis. Gene expression profiling identified no significant single gene differences between the 2 groups, as expected. However, analysis of Biological Systems Scores, using gene sets that were predetermined to survey each of 9 biologic systems, showed that only changes in inflammation signaling are characteristic of the at-risk subjects, as supported by multiple statistical approaches. Correspondingly, subsequent biologic testing showed significantly exaggerated RelA activation on the part of blood outgrowth endothelial cells from the at-risk subjects in response to stimulation with interleukin-1β/tumor necrosis factorα. We conclude that the pathobiology of circle of Willis disease in the child with sickle cell anemia predominantly involves inflammation biology, which could reflect differences in genetically determined endothelial biology that account for differing host responses to inflammation.


2012 ◽  
Vol 58 (3) ◽  
pp. 392-400 ◽  
Author(s):  
Lena Wennersten ◽  
Einat Karpestam ◽  
Anders Forsman

Abstract The matching habitat choice hypothesis posits that individuals actively choose those microhabitats that best match their specific phenotype to maximize fitness. Despite the profound implications, matching habitat choice has not been unequivocally demonstrated. We conducted two experiments to examine the impact of pigmentation pattern in the color polymorphic pygmy grasshopper Tetrix subulata on habitat choice in a laboratory thermal mosaic arena. We found no behavioral differences in the thermal mosaic among pygmy grasshoppers belonging to either pale, intermediate or dark natural color morphs. However, after manipulating the grasshoppers’ phenotype, the utilization through time of warmer and colder parts of the arena was different for black-painted and white-painted individuals. White-painted individuals used warmer parts of the arena, at least during the initial stage of the experiment. We conclude that microhabitat choice represents a form of behavioural plasticity. Thus, even if the choice itself is flexible and not genetically determined, it can still lead to spatial genetic structure in the population because the phenotypes themselves may be genetically mediated.


Genome ◽  
1988 ◽  
Vol 30 (5) ◽  
pp. 776-781 ◽  
Author(s):  
Nicholi Vorsa ◽  
Paul S. Manos ◽  
Maria I. van Heemstra

Leaf tissue extracts from diploid, tetraploid, and hexaploid species of blueberry, Vaccinium section Cyanococcus, were electrophoretically analyzed for isozyme polymorphism in 12 enzyme systems. Aldolase, shikimate dehydrogenase, triose phosphate isomerase, glucose-6-phosphate dehydrogenase, phosphoglucomutase, aconitase, alcohol dehydrogenase, and aspartate aminotransferase showed activity, but banding was not clear. Four enzymes, malate dehydrogenase (MDH), phosphoglucose isomerase (PGI), 6-phosphogluconate dehydrogenase (6-PGD), and isocitrate dehydrogenase (IDH), exhibited interpretable banding patterns. Two loci were apparent for MDH, PGI, and 6-PGD and one for IDH. Polymorphism was detected at Mdh-2, Pgi-2, 6-Pgd-2, and Idh. Three allozymes were found at Mdh-2 and Idh and at least four at Pgi-2 and 6-Pgd-2. Allozyme segregation ratios observed in progeny of controlled diploid crosses supported single-gene Mendelian inheritance. Banding patterns of all allozymes indicated a dimeric structure for these four enzymes. It appears that all alleles at multiallelic loci are expressed in polyploids. Preliminary data suggest that allozyme analyses may be useful in taxonomic studies in blueberry.Key words: Vaccinium, allozymes, inheritance, electrophoresis.


Author(s):  
Kirti S. Deo ◽  
Samyak A. Ganjre

<p class="abstract"><strong>Background:</strong> Studies on etiology of generalized vitiligo have established that it is a genetically determined, autoimmune, auto inflammatory diathesis. Polymorphism in myriad genes is associated with vitiligo and newer ones are being identified with advancement in research methods. This study enabled inheritance pattern recognition in multiplex familial cases of vitiligo and subject members to whole exome sequencing (WES) to find out the etiological gene defect in a particular family.</p><p class="abstract"><strong>Methods:</strong> 7 multiplex families with at least two cases and two healthy counterparts, spread across generations were enrolled. Demographic data, clinical history and familial data were collected for pedigree analysis and blood samples were collected for extraction of genomic DNA.<strong></strong></p><p class="abstract"><strong>Results:</strong> Multiple possible modes of Mendelian inheritance could be contemplated to cause disease expression in probands. Autosomal recessive pattern was observed to be the most likely amongst various possible modes, followed closely by autosomal dominant, with X-linked recessive, and X- linked dominant occurring less frequently. WES for one of the multiplex families is desirable and planned at an apex institute of genetic studies which will reveal the etiologic gene defect on conclusion of analysis.</p><p><strong>Conclusions:</strong> In this study we have used to our advantage the familial occurrence of the disease to seek for genes which occurred with a greater frequency in affected members of a family than their healthy counterparts, assuming that the same mutated gene should be universally present in all affected members across generations in the same family, enabling a better understanding of genetic predisposition in familial vitiligo. </p>


2020 ◽  
Author(s):  
Mehrdad A Estiar ◽  
Eric Yu ◽  
Ikhlass Haj Salem ◽  
Jay P Ross ◽  
Kheireddin Mufti ◽  
...  

Hereditary spastic paraplegia is a group of rare motor neuron diseases considered to be inherited in a classical monogenic Mendelian manner. Although the typical inheritance of spastic paraplegia type 7 is autosomal recessive, several reports have suggested that SPG7 variants may also cause autosomal dominant HSP. We aimed to conduct an exome-wide genetic analysis on a large Canadian cohort of hereditary spastic paraplegia patients and controls to examine the association of SPG7 and hereditary spastic paraplegia. In total, 585 hereditary spastic paraplegia patients from 372 families and 1,175 controls, including 580 unrelated individuals, were analyzed for the presence of SPG7 variants. Whole exome sequencing was performed on 400 hereditary spastic paraplegia patients (291 index cases) and all 1,175 controls. After excluding 38 biallelic hereditary spastic paraplegia type 7 patients, the frequency of heterozygous pathogenic/likely pathogenic SPG7 variant carriers (4.8%) among hereditary spastic paraplegia unrelated index cases who underwent WES, was significantly higher than among unrelated controls (1.7%; OR=2.88, 95%CI=1.24-6.66, p=0.009). The heterozygous SPG7 p.(Ala510Val) variant was found in 3.7% of index cases vs. 0.85% in unrelated controls (OR=4.42, 95%CI=1.49-13.07, p=0.005). We identified four heterozygous SPG7 variant carriers with an additional pathogenic variant in genes known to cause hereditary spastic paraplegia, compared to zero in controls (OR=19.58, 95%CI=1.05-365.13, p=0.0031; Fisher Exact test with Haldane-Anscombe correction), indicating potential digenic inheritance. We further identified four families with heterozygous variants in SPG7 and SPG7-interacting genes (CACNA1A, AFG3L2 and MORC2). Out of these, there is especially compelling evidence for epistasis between SPG7 and AFG3L2. The p.(Ile705Thr) variant in AFG3L2 is located at the interface between hexamer subunits, in a hotspot of mutations associated with spinocerebellar ataxia type 28 that affect its proteolytic function. Our results provide evidence for complex inheritance in SPG7-associated hereditary spastic paraplegia, which may include recessive and possibly dominant and digenic/epistasis forms of inheritance.


2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
Nasir Ganikhodjaev ◽  
Mansoor Saburov ◽  
Ashraf Mohamed Nawi

We shall explore a nonlinear discrete dynamical system that naturally occurs in population systems to describe a transmission of a trait from parents to their offspring. We consider a Mendelian inheritance for a single gene with three alleles and assume that to form a new generation, each gene has a possibility to mutate, that is, to change into a gene of the other kind. We investigate the derived models and observe chaotic behaviors of such models.


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