• Title/Summary/Keyword: gamete

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Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor

  • Byambaragchaa, Munkhzaya;Ahn, Tae-Young;Choi, Seung-Hee;Kang, Myung-Hwa;Min, Kwan-Sik
    • Animal Bioscience
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    • v.35 no.3
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    • pp.399-409
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    • 2022
  • Objective: Follicle-stimulating hormone (FSH) is the central hormone involved in mammalian reproduction, maturation at puberty, and gamete production that mediates its function by control of follicle growth and function. The present study investigated the mutations involved in the regulation of FSH receptor (FSHR) activation. Methods: We analyzed seven naturally-occurring mutations that were previously reported in human FSHR (hFSHR), in the context of equine FSHR (eFSHR); these include one constitutively activation variant, one allelic variant, and five inactivating variants. These mutations were introduced into wild-type eFSHR (eFSHR-wt) sequence to generate mutants that were designated as eFSHR-D566G, -A306T, -A189V, -N191I, -R572C, -A574V, and -R633H. Mutants were transfected into PathHunter EA-parental CHO-K1 cells expressing β-arrestin. The biological function of mutants was analyzed by quantitating cAMP accumulation in cells incubated with increasing concentrations of FSH. Results: Cells expressing eFSHR-D566G exhibited an 8.6-fold increase in basal cAMP response, as compared to that in eFSHR-wt. The allelic variation mutant eFSHR-A306T was not found to affect the basal cAMP response or half maximal effective concentration (EC50) levels. On the other hand, eFSHR-D566G and eFSHR-A306T displayed a 1.5- and 1.4-fold increase in the maximal response, respectively. Signal transduction was found to be completely impaired in case of the inactivating mutants eFSHR-A189V, -R572C, and -A574V. When compared with eFSHR-wt, eFSHR-N191I displayed a 5.4-fold decrease in the EC50 levels (3,910 ng/mL) and a 2.3-fold decrease in the maximal response. In contrast, cells expressing eFSHR-R633H displayed in a similar manner to that of the cells expressing the eFSHR-wt on signal transduction and maximal response. Conclusion: The activating mutant eFSHR-D566G greatly enhanced the signal transduction in response to FSH, in the absence of agonist treatment. We suggest that the state of activation of the eFSHR can modulate its basal cAMP accumulation.

Study on Genetic Evaluation using Genomic Information in Animal Breeding - Simulation Study for Estimation of Marker Effects (가축 유전체정보 활용 종축 유전능력 평가 연구 - 표지인자 효과 추정 모의실험)

  • Cho, Chung-Il;Lee, Deuk-Hwan
    • Journal of Animal Science and Technology
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    • v.53 no.1
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    • pp.1-6
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    • 2011
  • This simulation study was performed to investigate the accuracy of the estimated breeding value by using genomic information (GEBV) by way of Bayesian framework. Genomic information by way of single nucleotide polymorphism (SNP) from a chromosome with length of 100cM were simulated with different marker distance (0.1cM, 0.5cM), heritabilities (0.1, 0.5) and half sibs families (20 heads, 4 heads). For generating the simulated population in which animals were inferred to genomic polymorphism, we assumed that the number of quantitative trait loci (QTL) were equal with the number of no effect markers. The positions of markers and QTLs were located with even and scatter distances, respectively. The accuracies of estimated breeding values by way of indicating correlations between true and estimated breeding values were compared on several cases of marker distances, heritabilities and family sizes. The accuracies of breeding values on animals only having genomic information were 0.87 and 0.81 in marker distances of 0.1cM and 0.5cM, respectively. These accuracies were shown to be influenced by heritabilities (0.87 at $h^2$ =0.10, 0.94 at $h^2$ =0.50). According to half sibs' family size, these accuracies were 0.87 and 0.84 in family size of 20 and 4, respectively. As half sibs family size is high, accuracy of breeding appeared high. Based on the results of this study it is concluded that the amount of marker information, heritability and family size would influence the accuracy of the estimated breeding values in genomic selection methodology for animal breeding.

The Studies on the Change of Lipid Phosphorus and Influence of Irradiation with the Origination of Silkworm Eggs (Bombyx mori L.) (가잠난 발생과정에서 Lipid Phosphorus의 변동과 방사선영향에 관한 연구(제일보))

  • 김원경;임영우
    • Journal of Sericultural and Entomological Science
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    • v.13 no.1
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    • pp.31-34
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    • 1971
  • The pupa (7th. day after mounting) were irradiated for foully minutes with 1,000${\gamma}$-ray and the copulation was done under the various conditions when the pupa grew to be imagos. The silkworm eggs that the imagos laid were divided into many groups by five, fifteen, foully-five, ninety, seven-hundred, twenty and twenty-four hundred minutes eggs respectively and the lipid phosphorus in the each group of eggs was analyzed as follows. 1. The quantity of 928${\gamma}$/100mg dry powder (D. P.) was shown in the group of the fourt-five minutes eggs whose ovum nucleus and sperm nucleus were not conjugate in the control C (male and female). The number of the greatest quantity of 944${\gamma}$/100mg D.P. after the syngamy of ovum nucleus and sperm nucleus while the smallest quantity was 768${\gamma}$/100mg D.P. in the group of ninety minutes eggs. 2. Not much difference could be seen the copulation group of female irradiation and male control and the copulation group of male irradiation and female control compared to the both male and female control group, but the influence could be seen in the group of irradiated female pupas. 3. The great difference could be seen in the group of irradiated male and female pupa compared to the control group. The five minutes eggs showed the smallest quantity of 536${\gamma}$/100mg D.P. and the quantity of lipid phosphorus rapidly began to increase from the fifteen minutes eggs. The quantity amounted to 1,082${\gamma}$/100 mg D.P. in the case of seven hundred and twenty minutes eggs while the quantity decreased in the twenty-four hundred minutes eggs which showed 912${\gamma}$/100 mg D.P. The general result obtained in the present study was that the irradiated male and female pupa were greatly influenced before and after the syngamy of gamete.

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Overcoming sterility by Caffeine and Temperature in Oriental-Asiatic Interspecific Lily Hybrid (백합 Oriental-Asiatic 종간잡종의 임성 회복을 위한 카페인과 변온처리)

  • Park, Song Kyoung;Park, In Sook;Kim, Chang Kil;Jee, Sun Ok;Lim, Ki Byung
    • FLOWER RESEARCH JOURNAL
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    • v.17 no.4
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    • pp.279-284
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    • 2009
  • In order to recover fertility from sterile interspecific OA-1 $F_1$ hybrid (Oriental hybrid 'Mero Star' ${\times}$ Asiatic hybrid 'Connecticut King'), various concentrations (0.1, 0.3 and 0.5%) of caffeine were injected directly into flower buds and then confirmed the viability of OA-1 $F_1$ hybrid at the flowering time. After the caffeine treatment, fertilized $F_1$ hybrids were crossed as female with Asiatic hybrid 'Lanzarote' as male. Five plantlets were obtained from seven embryos of 16 pollinated flowers at 0.3% treatment of caffeine while 0.5% treatment of caffeine obtained one plant let and 0.1 % treatment of caffeine plantlet did not produce at all. Thus 0.3% of caffeine treatment was considered as optimum concentration to produce subsequent progenies and the OA-l $F_1$ hybrid treated with caffeine produced 51% of putative 2n gametes. Pollen germination of OA-2 ('Romero Star' ${\times}$ 'Lady Rosa') and OA-3 ('Expression' ${\times}$ 'Lady Rosa') was not differ between temperature treatment alone and in combination with caffeine and temperature treatment. In the reciprocal crosses of OA-1 and Asiatic hybrid 'Lanzarote' or Oriental hybrid 'Sorbonne', A ('Lanzarote') ${\times}$ OA-1 or OA-1 ${\times}$ A crosses showed better results than O ('Sorbonne') ${\times}$ OA-1 or OA-1 ${\times}$ a crosses in plant obtaining. All progenies obtained from A ${\times}$ OA-1 or OA-1 ${\times}$ A crosses were confirmed as triploids by GISH analysis.