scholarly journals The Cellular Expression and Genetics of an Established Polymorphism in Poecilia reticulata; “Purple Body, (Pb)” is an Autosomal Dominant Gene

2017 ◽  
Author(s):  
Alan S. Bias ◽  
Richard D. Squire
Keyword(s):  
Poecilia Reticulata ◽  
Autosomal Dominant ◽  
Dominant Gene ◽  
Phenotypic Expression ◽  
Wild Type ◽  
Wild Populations ◽  
Dominant Trait ◽  
Cellular Expression ◽  
Male Ornaments ◽  
Color Pigment

AbstractModification of wild-type carotenoid orange and pteridine red coloration and spotting of male ornaments in both wild populations of Poecilia reticulata (Guppies) and modern Domestic Guppy strains by the Purple Body gene has long been overlooked in research articles and little understood in breeder publications. This modification is commonly found in wild-type Poecilia reticulata reticulata populations from numerous collection sites and has been photographed but not recognized in these collections. It is non-existent or near absent in collections taken from variant populations of Poecilia reticulata wingei. We identify and determine the mode of inheritance, cellular and phenotypic expression by the Purple gene in these stocks. The Purple Body color pigment modification is a distinct polymorphism in wild P. reticulata reticulata populations. Its existence suggests multiple benefits that satisfy female sexual selection preferences, and minimize or reduce potential predation risks. Photographic and microscopic evidence demonstrated that Purple Body is a normal polymorphism in wild and domestic guppies modifying color pigment regions. Purple Body is inherited as an autosomal incompletely dominant trait.

scholarly journals The Phenotypic Expression of Purple Body (Pb) in Domestic Guppy Strains of Poecilia reticulata

2017 ◽  
Author(s):  
Alan S. Bias ◽  
Richard D. Squire
Keyword(s):  
Poecilia Reticulata ◽  
Phenotypic Expression ◽  
Research Articles ◽  
Wild Type ◽  
Dominant Trait ◽  
Vast Array ◽  
Naturally Occurring ◽  
Photographic Evidence ◽  
Male Ornaments ◽  
Mutant Genes

AbstractModification of wild-type carotenoid orange and pteridine red coloration and spotting of male ornaments in modern Domestic Guppy Strains (Poecilia reticulata reticulata) by the naturally occurring Purple Body gene (Pb) has been long incorporated into their strains by Pedigree Stock Breeders. It is inherited as an autosomal incompletely dominant trait. Its existence has allowed breeders to produce a vast array of Purple based phenotypes. Photographic evidence demonstrates that Purple Body is a normal polymorphism in domestic guppies modifying color pigmented regions. When combined with currently used mutant genes such as Albino, Blond, Golden, Asian Blau, Coral Red, Magenta, Grass, Moscow, Pink, Platinum, Red Mosaic, Multicolor, and Full Red, startling new phenotypes are created. The recently described Purple Body gene (Bias and Squire 2017a, 2017b, and 2017c) has long been overlooked in research articles and little understood in breeder publications.

scholarly journals The Cellular Expression and Genetics of Purple Body (Pb) in Poecilia reticulata, and its Interactions with Asian Blau (Ab) and Blond (bb) under Reflected and Transmitted Light

2017 ◽  
Author(s):  
Alan S. Bias ◽  
Richard D. Squire
Keyword(s):  
Poecilia Reticulata ◽  
Yellow Pigment ◽  
Transmitted Light ◽  
Wild Type ◽  
Cellular Expression ◽  
Large Numbers

AbstractMature Purple Body and Non-Purple Body male guppies differ from each other in several ways. Non-Purple males may have large numbers of xanthophores, erythrophores, and blue iridophores, in addition to the usual dendritic, corolla and punctate melanophores. Fewer violet iridophores are found. In contrast, homozygous Purple Body males lack collected and clustered xanthophores, although isolated single xanthophores remain. Violet iridophores and blue iridophores (violet-blue chromatophores units) abound. The dendrites of dendritic melanophores are finer and form chains with each other. Punctate and corolla melanophores in areas comprising orange ornaments are greatly reduced in number. The heterozygous Purple Body male has erythrophores similar to those of non-Purple males, but yellow pigment is reduced. The melanophores are not as greatly changed in orange ornaments. In Domestic Guppy strains, and at least in one suspected instance in wild-type, melanophore structure and populations may be further modified by one or more additional autosomal genes.

scholarly journals Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Neurogenetics ◽  
2021 ◽  
Author(s):  
Luca Magistrelli ◽  
Roberta Croce ◽  
Fabiola De Marchi ◽  
Chiara Basagni ◽  
Miryam Carecchio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Case Series ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Phenotypic Spectrum ◽  
Primary Familial Brain Calcification ◽  
Psychiatric Disturbances ◽  
Brain Calcification ◽  
Uncertain Significance ◽  
Six Genes

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

2013 ◽  
Vol 227 (2) ◽  
pp. 342-348 ◽  
Author(s):  
Stefano Bertolini ◽  
Livia Pisciotta ◽  
Claudio Rabacchi ◽  
Angelo B. Cefalù ◽  
Davide Noto ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Phenotypic Expression

Complex Segregation Analysis of Thyroid Autoantibodies: Are They Inherited as an Autosomal Dominant Trait?

1993 ◽  
Vol 43 (3) ◽  
pp. 141-146 ◽  
Author(s):  
D.I.W Phillips ◽  
D.C. Shields ◽  
J.M. Dugoujon ◽  
L. Prentice ◽  
P. McGuffin ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Autosomal Dominant ◽  
Thyroid Autoantibodies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Complex Segregation Analysis

Genetical Studies on the Skeleton of the Mouse

Development ◽  
1958 ◽  
Vol 6 (4) ◽  
pp. 569-574
Author(s):  
M. S. Deol
Keyword(s):  
Dominant Gene ◽  
Wild Populations ◽  
Wild Mice ◽  
Pilot Experiment ◽  
Short Tail ◽  
Extensive Range ◽  
Do So

A Pilot experiment by Weber (1950) established the fact that the minor skeletal variations universally present in strains of tame mice are also encountered in wild populations; and that the incidence of individual variants may differ widely from population to population. In the decade since Weber's work many new variants have come to light, and it seemed desirable to repeat his observations on the more extensive range of variants now available. An opportunity to do so presented itself in 1956 when wild mice from various localities in the eastern U.S.A. became available for study. These animals had been collected for a totally different purpose. As is well known through the work of Dunn and his collaborators, there exists in the mouse a semi-dominant gene (T) for Brachyury or short-tail which in T/+ heterozygotes shortens the tail to a varying extent.

scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

scholarly journals Molecular Analysis and Genome Sequencing of SARS-Cov-2 during Second Wave 2021 Revealed Variant Diversity in India

2021 ◽  
Author(s):  
Rupinder Bakshi ◽  
Satinder Kaur ◽  
Karashdeep Kaur ◽  
Ramanpreet Kaur ◽  
Jaspreet Kaur Boparai ◽  
...  
Keyword(s):  
Genome Sequencing ◽  
Immune Escape ◽  
Age Group ◽  
Wild Type ◽  
Rt Pcr ◽  
Dominant Trait ◽  
Male Population ◽  
Second Wave ◽  
Rapid Emergence ◽  
Critical Challenge

SARS-CoV-2 variants rapid emergence has posed critical challenge of higher transmission and immune escape causing serious threats to control the pandemic. The present study was carried out in confirmed cases of SARS-CoV-2 patients to elucidate the prevalence of SARS-CoV-2 variant strain. We performed RT-PCR using extracted RNA from the nasopharyngeal swabs of suspected Covid-19 patients. Confirmed positive cases with CT<25 were subjected to whole-genome sequencing to track the prevalence of the virus in the Malwa region of Punjab. The presence of B.1, B.1.1.7, B.1.351, B.1.617.1, B.1.617.2, AY.1 and other unidentified variants of SARS-CoV-2 was found in the studied population. Among all the variants, B.1.1.7 (UK variant) and B.1.617.2 (delta-Indian variant) was found to be the most dominant variant in the population and was found majorly in Patiala followed by Ludhiana, SBS Nagar, Mansa and Sangrur. In addition to this, sequencing results also observed that the dominant trait was more prevalent in male population and age group 21-40 years. The B.1.1.7 and B.1.617.2 variant of SARS-CoV-2 is replacing the wild type (Wuhan Strain) and emerging as the dominant variant in Punjab.

The genetic control of red cell glutathione deficiencies in Finnish Landrace and Tasmanian Merino sheep and in crosses between these breeds

1976 ◽  
Vol 87 (2) ◽  
pp. 315-323 ◽  
Author(s):  
Elizabeth M. Tucker ◽  
L. Kilgour ◽  
J. D. Young
Keyword(s):  
Genetic Control ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Dominant Gene ◽  
Red Cell ◽  
Merino Sheep ◽  
Gene Coding ◽  
Transport Defect ◽  
Low Levels ◽  
Cysteine Synthetase

SummaryFinnish Landrace sheep with low red cell GSH concentrations resulting from a defective transport system for certain arnino acids were crossed with Tasmanian Merino sheep with a red cell GSH deficiency due to impaired activity of the enzyme γ-glutamyl cysteine synthetase. Inheritance data showed that the two types of GSH deficiency were under independent genetic control. In the Finnish Landrace breed, the gene coding for the transport defect (Trn) was inherited as an autosomal recessive and sheep homozygous for this gene had high red cell concentrations of lysine and ornithine (Ly ×) as well as low levels of GSH. In the Tasmanian Merino breed the GSH deficiency behaved as if controlled by an autosomal dominant gene (GSHL). Backcross breeding experiments resulted in lambs which had inherited both types of GSH deficiency. Evidence suggested that such ‘double low’ GSH lambs had an impaired viability. In Tasmanian Merinos the GSH deficiency was established prior to birth. Newborn Finnish Landrace lambs were clearly separable into two types on the basis of their red cell lysine and ornithine content but not on their GSH concentrations.

scholarly journals Analysis of Cytadherence-Deficient, GapA-NegativeMycoplasma gallisepticum Strain R

2000 ◽  
Vol 68 (12) ◽  
pp. 6643-6649 ◽  
Author(s):  
L. Papazisi ◽  
K. E. Troy ◽  
T. S. Gorton ◽  
X. Liao ◽  
S. J. Geary
Keyword(s):  
Shuttle Vector ◽  
Phenotypic Expression ◽  
Mycoplasma Genitalium ◽  
Transcriptional Analysis ◽  
Start Codon ◽  
Wild Type ◽  
Gene Encoding ◽  
Genes Encoding ◽  
Low Passage ◽  
Translational Start

ABSTRACT Comparison of the phenotypic expression of Mycoplasma gallisepticum strain R low (passage 15) to that of strain R high (passage 164) revealed that three proteins, i.e., the cytadhesin molecule GapA, a 116-kDa protein (p116), and a 45-kDa protein (p45), are missing in strain R high. Sequence analysis confirmed that the insertion of an adenine 105 bp downstream of the gapAtranslational start codon resulted in premature termination of translation in R high. A second adenine insertion had also occurred at position 907. Restoration of expression of wild-type gapAin R high (clone designated GT5) allowed us to evaluate the extent to which the diminished cytadherence capacity could be attributed to GapA alone. The results indicated that GT5 attached to the same limited extent as the parental R high, from which it was derived. The cytadherence capability of the parental R high was not restored solely by gapA complementation alone, indicating that either p116 or p45 or both may play a role in the overall cytadherence process. The gene encoding p116 was found to be immediately downstream ofgapA in the same operon and was designatedcrmA. This gene exhibited striking homology to genes encoding molecules with cytadhesin-related functions in bothMycoplasma pneumoniae and Mycoplasma genitalium. Transcriptional analysis revealed thatcrmA is not transcribed in R high. We are currently constructing a shuttle vector containing both the wild-typegapA and crmA for transformation into R high to assess the role of CrmA in the cytadherence process.

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