Inheritance of plumage colour in the F1 and test cross progeny of Japanese quail

2020 ◽  
Vol 47 (3) ◽  
pp. 212-224
Author(s):  
T. I. Adedoyin ◽  
T. R. Fayeye ◽  
O. J. Amao
Keyword(s):  
Japanese Quail ◽  
Plumage Colour ◽  
Wild Type ◽  
Phenotypic Effect ◽  
Chi Square ◽  
Type Allele ◽  
Test Cross ◽  
Dominant Phenotype ◽  
Recessive Genes ◽  
Test Cross Progeny

Recessive genes produced its phenotypic effect only when its allele is identical while the dominant ones produced its effect either with identical or dissimilar alleles. This study was conducted to determine the mode of inheritance of plumage colour in Japanese quail flock in Nigeria, using the Manchurian Gold (MG), Pharaoh (PH) and Panda White (PW) plumage types. All possible crosses were made among the three colour variants making a total of nine mating groups. A total number of 2,348 F1 chicks and 1,563 test cross progeny obtained from the incubated eggs were classified and counted by their down colour into observable plumage colour groups. The expected phenotypic ratios of the F1 and test cross progeny were computed based on the assumption that parents that were homozygous for a particular plumage colour breed true. The results revealed that the Pharaoh plumage quails carry the wild-type allele (Wb) in homozygous form or in heterozygous with the Panda White (wb) allele. The Manchurian gold plumage quails carry the Manchurian Gold-type allele (Wb+) in heterozygous with either Wb or wb. All the Panda White chicks were homozygous for the wb allele, which was recessive to both Wb and Wb+ alleles. The Chi-square results confirm the heterozygousity of the dominant phenotype in the test crosses. It can be concluded that inheritance of plumage colour is controlled by autosomal genes with dominant hierarchy of MG> PH> PW (Wb+ >Wb>wb).

scholarly journals CYP2C19 Polymorphisms in Indonesia: Comparison among Ethnicities and the Association with Clinical Outcomes

Biology ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 300
Author(s):  
Muhammad Miftahussurur ◽  
Dalla Doohan ◽  
Ari Fahrial Syam ◽  
Iswan Abbas Nusi ◽  
Phawinee Subsomwong ◽  
...  
Keyword(s):  
Proton Pump Inhibitor ◽  
Clinical Outcomes ◽  
Proton Pump ◽  
Poor Metabolizers ◽  
Wild Type Allele ◽  
Wild Type ◽  
Type Allele ◽  
Sydney System ◽  
Intermediate Metabolizers ◽  
Cyp2c19 Polymorphisms

CYP2C19 polymorphisms are important factors for proton pump inhibitor-based therapy. We examined the CYP2C19 genotypes and analyzed the distribution among ethnicities and clinical outcomes in Indonesia. We employed the polymerase chain reaction-restriction fragment length polymorphism method to determine the CYP2C19 genotypes and evaluated inflammation severity with the updated Sydney system. For CYP2C19*2, 46.4% were the homozygous wild-type allele, 14.5% were the homozygous mutated allele, and 39.2% were the heterozygous allele. For CYP2C19*3, 88.6% were the homozygous wild-type allele, 2.4% were the homozygous mutated allele, and 9.0% were the heterozygous allele. Overall, the prevalence of rapid, intermediate, and poor metabolizers in Indonesia was 38.5, 41.6, and 19.9%, respectively. In the poor metabolizer group, the frequency of allele *2 (78.8%) was higher than the frequency of allele *3 (21.2%). The Papuan had a significantly higher likelihood of possessing poor metabolizers than the Balinese (OR 11.0; P = 0.002). The prevalence of poor metabolizers was lower compared with the rapid and intermediate metabolizers among patients with gastritis and gastroesophageal reflux disease. Intermediate metabolizers had the highest prevalence, followed by rapid metabolizers and poor metabolizers. Dosage adjustment should therefore be considered when administering proton pump inhibitor-based therapy in Indonesia.

Monoallelic Expression of Pax5: A Paradigm for the Haploinsufficiency of Mammalian Pax Genes?

1999 ◽  
Vol 380 (6) ◽  
Author(s):  
S.L. Nutt ◽  
M. Busslinger
Keyword(s):  
Human Disease ◽  
Mouse Genome ◽  
Monoallelic Expression ◽  
Wild Type Allele ◽  
Loss Of Function ◽  
Wild Type ◽  
Type Allele ◽  
Pax Genes ◽  
Default State ◽  
Mammalian Genes

AbstractIt is generally assumed that most mammalian genes are transcribed from both alleles. Hence, the diploid state of the genome offers the advantage that a loss-of-function mutation in one allele can be compensated for by the remaining wild-type allele of the same gene. Indeed, the vast majority of human disease syndromes and engineered mutations in the mouse genome are recessive, indicating that recessiveness is the ‘default’ state. However, a minority of genes are semi-dominant, as heterozygous loss-of-function mutation in these genes leads to phenotypic abnormalities. This condition, known as haploinsufficiency, has been described for five of the nine mammalian

Multiple Congenital Ocular Anomalies in a silver coat Missouri Fox Trotter stallion

2021 ◽  
Vol 49 (05) ◽  
pp. 350-354
Author(s):  
Verena Maria Herb ◽  
Verena Zehetner ◽  
Klaas-Ole Blohm
Keyword(s):  
Missense Mutation ◽  
Coat Color ◽  
Incidental Finding ◽  
Unknown Origin ◽  
Allelic Frequency ◽  
Cystic Lesions ◽  
Wild Type Allele ◽  
Wild Type ◽  
Type Allele ◽  
Phenotype Characterization

AbstractThis is the first description of Multiple Congenital Ocular Anomalies (MCOA) in a silver coat Missouri Fox Trotter determined to be heterozygous for the Silver PMEL17 missense mutation associated with MCOA and a silver coat in other breeds. The stallion was treated for meningoencephalitis and bilateral uveitis of unknown origin. A complete ophthalmic examination and ocular ultrasonography were performed. As an incidental finding, the patient exhibited bilateral cystic lesions restricted to the temporal anterior uvea consistent with the Cyst phenotype and was genotyped heterozygous for the Silver mutation. Additionally, 4 other non-silver colored Missouri Fox Trotters were genotyped homozygous for the wild-type allele. Screening for PMEL17 mutation in Missouri Fox Trotters accompanied by ophthalmic phenotype characterization is recommended to determine the allelic frequency and facilitate informed breeding decisions since the silver coat color is particularly popular.

Abstract 1805: Chromosome 9p21.3 Genetic Variation is Associated with Angiographic CAD but not with CAD Disease Burden

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Chrissa P Mower ◽  
Jeffrey L Anderson ◽  
Benjamin D Horne ◽  
James J Park ◽  
Jesse L Coleman ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Disease Burden ◽  
Disease Onset ◽  
Cardiac Risk ◽  
Wild Type ◽  
Chi Square ◽  
High Risk Disease ◽  
Chi Square Test ◽  
Male Frequency ◽  
Cad Risk

Genetic variation at the 9p21.3 locus rs2383206 is associated with coronary heart disease (CHD) phenotypes. In a comparison of patients with and without angiographically confirmed CHD, the G allele of rs2383206 was present more frequently in diseased vs controls (normal angiograms). However, the pathophysiologic impact, whether it affects initiation, severity, or triggers an event, of the 9p21.3 locus remains unknown. We sought to determine whether 9p21.3 variation affects disease severity (promotion) by assessing its association with CAD burden. Methods: Genotyping for rs2383206 using 5′exonuclease chemistry (Taqman) was performed on 1759 subjects. Subjects were grouped as homozygous wild-type (low risk), heterozygous (intermediate risk) or homozygous risk-associated genotype (high risk). Disease burden was assessed by 1, 2, or 3 vessels; ≥70% stenosis and the validated Duke CAD Index (DCI). Comparison used a chi-square test (single vs multivessel disease) and analysis of variance (ANOVA) for the DCI comparison. Results: Average age 51.1± 7.4 years, 64.0% male. Frequency of the CAD risk allele did not differ among groups with 1, 2, or 3 vessel disease. There was no difference among groups with respect to the DCI. After adjustment for standard cardiac risk factors, the rs2383206 genotype was associated with CAD compared to controls (OR (CI)=1.73(1.26–1.85), p=0.001). Conclusion: The rs2383206 polymorphism was not associated with CAD disease burden. Findings suggest the rs2383206 polymorphism, although associated with disease onset is not likely involved in its progression. These findings will aid in refining the application of 9p21.3 for risk assessment and developing novel preventive and therapeutic strategies.

scholarly journals Nonsense mutation in PMEL is associated with yellowish plumage colour phenotype in Japanese quail

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Satoshi Ishishita ◽  
Mayuko Takahashi ◽  
Katsushi Yamaguchi ◽  
Keiji Kinoshita ◽  
Mikiharu Nakano ◽  
...  
Keyword(s):  
Japanese Quail ◽  
Nonsense Mutation ◽  
Plumage Colour

scholarly journals GENETIC ANALYSIS OF THREE DOMINANT FEMALE-STERILE MUTATIONS LOCATED ON THE X CHROMOSOME OF DROSOPHILA MELANOGASTER

Genetics ◽  
1983 ◽  
Vol 105 (2) ◽  
pp. 309-325
Author(s):  
D Busson ◽  
M Gans ◽  
K Komitopoulou ◽  
M Masson
Keyword(s):  
X Chromosome ◽  
Germ Line ◽  
Female Sterility ◽  
Recessive Mutation ◽  
Wild Type Allele ◽  
Wild Type ◽  
Allelic Series ◽  
Type Allele ◽  
Dominant Female ◽  
Female Germ Line

ABSTRACT Three dominant female-sterile mutations were isolated following ethyl methanesulfonate (EMS) mutagenesis. Females heterozygous for two of these mutations show atrophy of the ovaries and produce no eggs (ovoD  1) or few eggs (ovoD  2); females heterozygous for the third mutation, ovoD  3, lay flaccid eggs. All three mutations are germ line-dependent and map to the cytological region 4D-E on the X chromosome; they represent a single allelic series. Two doses of the wild-type allele restore fertility to females carrying ovoD  3 and ovoD  2, but females carrying ovoD  1 and three doses of the wild-type allele remain sterile. The three mutations are stable in males but are capable of reversion in females; reversion of the dominant mutations is accompanied by the appearance, in the same region, of a recessive mutation causing female sterility. We discuss the utility of these mutations as markers of clones induced in the female germ line by mitotic recombination as well as the nature of the mutations.

Molecular characterization of Kita-Kyushu lung cancer antigen (KK-LC-1) expressing carcinomas.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e21000-e21000
Author(s):  
Robert Hsu ◽  
Yasmine Baca ◽  
Joanne Xiu ◽  
Rongfu Wang ◽  
Joseph Nicholas Bodor ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Immune Cell ◽  
Molecular Subtype ◽  
Statistical Significance ◽  
Cell Receptor ◽  
Wild Type ◽  
Chi Square ◽  
Lung Cancers ◽  
Genome Medicine ◽  
M1 Macrophage

e21000 Background: Cancer/testis antigens (CTAs) are strongly expressed in some solid tumors but minimally expressed in normal tissue, making them appealing therapeutic targets. KK-LC-1 (CXorf61) has cytoplasmic expression in some types of gastric and breast cancer and reports of expression in one-third of lung cancer tumors. Here, we characterize the molecular subtype of lung cancers expressing KK-LC-1 to plan rational clinical trials of T-cell receptor therapy (TCR-T) targeting KK-LC-1. Methods: A total of 9790 non-small cell lung cancer (NSCLC) tumors that underwent whole transcriptome sequencing (Illumina NovaSeq) and NextGen DNA sequencing (NextSeq, 592 Genes and NovaSEQ, WES) at Caris Life Sciences (Phoenix, AZ) were analyzed. Tumors were split into quartiles based on KK-LC-1 expression and pathological and molecular differences were investigated. PD-L1 expression was tested by IHC using 22c3 (Dako) and TPS scores were reported. Immune cell fraction was calculated by QuantiSeq (Finotello 2019, Genome Medicine). Statistical significance was determined using chi-square/Fisher-Exact and adjusted for multiple comparisons (adjusted p < 0.05). Results: Adenocarcinoma had significantly higher KK-LC-1 expression than squamous cell carcinoma (median 3.25 vs. 1.17 transcripts per million (TPM), p < 0.0001). There is statistically higher expression of KK-LC-1 in pan wild type (3.95 TPM) compared to tumors with EGFR mutation (1.95 TPM), ALK fusion (0.6 TPM), MET exon-14-skip mutation (1.22 TPM), RET fusion (1.42 TPM), and ROS1 fusion (1.78 TPM). Tumors within the highest quartile of KK-LC-1 expression (Q4) had a greater proportion of TMB > 10 mutations per megabase (mt/MB) (44% vs. 28%) compared to Q1. No difference was seen in PD-L1 expression. In adenocarcinoma, Q4 had a higher TMB compared to Q1 (9 mt/MB vs. 5 mt/MB). There was a higher KRAS mutation prevalence in Q3/Q4 (34.8%/35.0%) than Q1/Q2 (22%/29%) but a lower ALK fusion prevalence in Q3/Q4 (1.0%/0.5%) compared to Q1/Q2 (3.3%/2.6%). Increased KK-LC-1 expression is associated with increased M1 Macrophage abundance. Conclusions: In our population, KK-LC-1 expression was higher in adenocarcinoma. Higher levels of KK-LC-1 expression were seen in pan-wild type and KRAS mutated tumors and associated with higher TMB while lower levels of expression were seen in driver positive cancers including EGFR, ALK, MET, RET and ROS1. TCR-T therapy directed against KK-LC-1 should be explored in patients whose clinical features reflect these characteristics.

scholarly journals CMET-18. IMPACT OF KRAS MUTATION STATUS ON THE EFFICACY OF IMMUNOTHERAPY IN LUNG CANCER BRAIN METASTASES

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi55-vi55
Author(s):  
Adam Lauko ◽  
Assad Ali ◽  
Soumya Sagar ◽  
Addison Barnett ◽  
Hong Li ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Brain Metastasis ◽  
Brain Metastases ◽  
Checkpoint Inhibitors ◽  
Care Center ◽  
Tertiary Care ◽  
Wild Type ◽  
Chi Square ◽  
Kras Mutations ◽  
Mutational Status

Abstract BACKGROUND Immunotherapy is increasingly used in patients with non-small cell lung cancer brain metastases (NSCLCBM). KRAS mutations are associated with worse prognosis and there is no FDA approved targeted therapy. KRAS mutations are associated with increased expression of PD-L1. We evaluated the outcomes of NSCLCBM with KRAS mutations treated with immune checkpoint inhibitors (ICI). METHODS We reviewed 800 patients with NSCLCBM treated at our tertiary care center. 226 had known KRAS mutational status, 121 of which received immunotherapy. Overall survival (OS) was calculated from either the start of immunotherapy (when both groups received immunotherapy) or from the date of diagnosis of brain metastasis. Kaplan-Meier method and Cox Proportional hazard model were utilized to determine differences in OS and the Chi-square test was utilized to determine differences in PD-L1 expression. RESULTS In 109 patients where both KRAS and PD-L1 status were known, KRAS mutations had greater PD-L1 expression (80.1% vs 61.9% positive, p=0.04). There was no difference in OS between KRAS mutant vs KRAS wild-type patients treated with immunotherapy. Median survival from the start of immunotherapy was 15.6 vs 15.5 months respectively (p=0.7), after adjusting for age, KPS, lesion number and extra-cranial metastasis (HR = .91, p=.7). Patients with KRAS mutations treated with immunotherapy versus those who received chemotherapy had a 1-year OS from the diagnosis of brain metastasis of 60.9% vs 38.7% respectively (trending towards significance, p=0.05). KRAS wild-type patients treated with immunotherapy versus those who did not receive immunotherapy had a 1-year OS from the diagnosis of brain metastasis of 61.9% vs 62.5% (p=0.85), respectively. DISCUSSION KRAS mutations are associated with increased PD-L1 expression. Use of immunotherapy negates the poor outcomes seen traditionally in patients with NSCLCBM and KRAS mutations and it improves survival compared to use of chemotherapy. Our experience supports the use of immunotherapy in these patients.

The Transplantation of Ovaries between Genetically Sterile and Wild Type Drosophila melanogaste

1965 ◽  
Vol 20 (4) ◽  
pp. 292-297 ◽  
Author(s):  
Robert C. King ◽  
Dietrich Bodenstein
Keyword(s):  
Drosophila Melanogaster ◽  
Body Cavity ◽  
Ovarian Tumors ◽  
Wild Type ◽  
Adult Females ◽  
Recessive Genes ◽  
Initiating Factors ◽  
Adult Drosophila ◽  
Do So ◽  
Drosophila Melanogaste

Ovarian tumors are characteristically found in adult Drosophila melanogaster females homozygous for certain recessive genes (fes, nw and fu). Ovaries genetically destined to become tumorous do so even when they are transplanted to a normal abdomen. Normal ovaries transplanted to the abdomen of females homozygous for such tumor genes do not become tumorous. Therefore there is no evidence for diffusible tumorigenic agents as initiating factors in the development of the ovarian tumors characteristic of females homozygous for fes, nw or fu. Vitellogenesis is retarded in adult females homozygous for certain recessive genes (fs 2.1, ty and ap4). Transplantation of ovaries from homozygous females to the abdominal body cavity of females carrying the + alleles of the gene in question fails to cure the implant in the case of fs 2.1 and ty. Ovaries of ap4/ap4 genotype produce abundant yolk when implanted into wild type abdomens. Thus it is the abdominal environment of ap4 which is at fault, rather than a malfunctioning of the ovary.

INHERITANCE OF THREE AUTOSOMAL MUTATIONS IN THE COLORADO POTATO BEETLE LEPTINOTARSA DECEMLINEATA (COLEOPTERA: CHRYSOMELDIAE)

1982 ◽  
Vol 24 (6) ◽  
pp. 681-686 ◽  
Author(s):  
Catherine Hsiao ◽  
T. H. Hsiao
Keyword(s):  
Colorado Potato Beetle ◽  
Leptinotarsa Decemlineata ◽  
Autosomal Recessive ◽  
Female Parent ◽  
Meiotic Pairing ◽  
Wild Type ◽  
Potato Beetle ◽  
Leptinotarsa Decemlineata Say ◽  
Recessive Genes ◽  
Recombination Value

A mutant Colorado potato beetle, Leptinotarsa decemlineata (Say), with white-body and pearl-eye was isolated. Karyotype analysis showed that the No. 2 chromosomes of the mutant are of the acrocentric race. Reciprocal crosses of the mutant with a metacentric race of the wild type revealed that both the white-body and pearl-eye are due to single autosomal recessive genes that are not allelic but segregate independently from each other. The pericentric inversion of No. 2 chromosomes is a stable mutation that followed Mendelian segregations in the F2 hybrids. Hybrids showed normal meiotic pairing. Chiasma frequency analyses indicated that the female parent influenced the recombination value of the hybrids.

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