• Title/Summary/Keyword: recessive genes

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Coat colour phenotype of Qingyu pig is associated with polymorphisms of melanocortin receptor 1 gene

  • Wu, Xiaoqian;Tan, Zhendong;Shen, Linyuan;Yang, Qiong;Cheng, Xiao;Liao, Kun;Bai, Lin;Shuai, Surong;Li, Mingzhou;Li, Xuewei;Zhang, Shunhua;Zhu, Li
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.7
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    • pp.938-943
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    • 2017
  • Objective: Qingyu pig, a Chinese indigenous pig breed, exhibits two types of coat colour phenotypes, including pure black and white with black spotting respectively. Melanocortin receptor 1 (MC1R) and agouti signaling protein (ASIP) are two widely reported pivotal genes that significantly affect the regulation of coat colour. The objectives of this study were to investigate whether the polymorphisms of these two genes are associated with coat colour and analyze the molecular mechanism of the coat colour separation in Qingyu pig. Methods: We studied the phenotype segregation and used polymerase chain reaction amplification and Sanger sequencing to investigate the polymorphism of MC1R and ASIP in 121 Qingyu pigs, consisting of 115 black and 6 white with black spotted pigs. Results: Coat colour of Qingyu pig is associated with the polymorphisms of MC1R but not ASIP. We only found 2 haplotypes, $E^{QY}$ and $E^{qy}$, based on the 13 observed mutations from MC1R gene. Among which, $E^{qy}$ presented a recessive inheritance mode in black spotted Qingyu pigs. Further analysis revealed a g.462-463CC insertion that caused a frameshift mutation and a premature stop codon, thus changed the first transmembrane domain completely and lost the remaining six transmembrane domains. Altogether, our results strongly support that the variety of Qingyu pig's coat colour is related to MC1R. Conclusion: Our findings indicated that black coat colour in Qingyu pig was dominant to white with black spotted phenotype and MC1R gene polymorphism was associated with coat colour separation in Qingyu pig.

Association of a c.1084A>G (p.Thr362Ala)Variant in the DCTN4 Gene with Wilson Disease

  • Lee, Robin Dong-Woo;Kim, Jae-Jung;Kim, Joo-Hyun;Lee, Jong-Keuk;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.53-57
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    • 2011
  • Purpose: Wilson disease is an autosomal recessive disorder which causes excessive copper accumulation in the hepatic region. So far, ATP7B gene is the only disease-causing gene of Wilson disease known to date. However, ATP7B mutations have not been found in ~15% of the patients. This study was performed to identify any causative gene in Wilson disease patients without an ATP7B mutation in either allele. Materials and Methods: The sequence of the coding regions and exon-intron boundaries of the five ATP7B-interacting genes, ATOX1, COMMD1, GLRX, DCTN4, and ZBTB16, were analyzed in the 12 patients with Wilson disease. Results: Three nonsynonymous variants including c.1084A>G (p.Thr362Ala) in the exon 12 of the DCTN4 gene were identified in the patients examined. Among these, only p.Thr362Ala was predicted as possibly damaging protein function by in silico analysis. Examination of allele frequency of c.1084A>G (p.Thr362Ala) variant in the 176 patients with Wilson disease and in the 414 normal subjects revealed that the variant was more prevalent in the Wilson disease patients (odds ratio [OR]=3.14, 95% confidence interval=1.36-7.22, P=0.0094). Conclusion: Our result suggests that c.1084A>G (p.Thr362Ala) in the ATP7B-interacting DCTN4 gene may be associated with the pathogenesis of Wilson disease.

Variability in the Viral Protein Linked to the Genome of Turnip Mosaic Virus Influences Interactions with eIF(iso)4Es in Brassica rapa

  • Li, Guoliang;Zhang, Shifan;Li, Fei;Zhang, Hui;Zhang, Shujiang;Zhao, Jianjun;Sun, Rifei
    • The Plant Pathology Journal
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    • v.37 no.1
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    • pp.47-56
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    • 2021
  • Plants protect against viruses through passive and active resistance mechanisms, and in most cases characterized thus far, natural recessive resistance to potyviruses has been mapped to mutations in the eukaryotic initiation factor eIF4E or eIF(iso)4E genes. Five eIF4E copies and three eIF(iso)4E copies were detected in Brassica rapa. The eIF4E and eIF(iso)4E genes could interact with turnip mosaic virus (TuMV) viral protein linked to the genome (VPg) to initiate virus translation. From the yeast two-hybrid system (Y2H) and bimolecular fluorescence complementation (BiFC) assays, the TuMV-CHN2/CHN3 VPgs could not interact with BraA.eIF4E.a/c or BraA.eIF(iso)4E.c, but they could interact with BraA.eIF(iso)4E.a in B. rapa. Further analysis indicated that the amino acid substitution L186F (nt T556C) in TuMV-UK1 VPg was important for the interaction networks between the TuMV VPg and eIF(iso)4E proteins. An interaction model of the BraA. eIF(iso)4E protein with TuMV VPg was constructed to infer the effect of the significant amino acids on the interaction of TuMV VPgs-eIF(iso)4Es, particularly whether the L186F in TuMV-UK1 VPg could change the structure of the TuMV-UK1 VPg protein, which may terminate the interaction of the BraA.eIF(iso)4E and TuMV VPg protein. This study provides new insights into the interactions between plant viruses and translation initiation factors to reveal the working of key amino acids.

Association of HLA-G gene promoter haplotype with childhood IgA nephropathy in the Korean population (한국인에서의 소아 IgA 신병증과 HLA-G유전자의 promoter haplotype과의 관계)

  • Jung, Hwan-Hee;Hahn, Won-Ho;Cho, Byoung-Soo;Kim, Sung-Do
    • Clinical and Experimental Pediatrics
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    • v.53 no.4
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    • pp.548-553
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    • 2010
  • Purpose : IgA nephropathy (IgAN) is the most commonly occurring form of chronic glomerulonephritis in pediatric cases. Human leukocyte antigen (HLA) genes have been implicated in various inflammatory and autoimmune diseases. The present study was conducted to investigate the association between 2 single nucleotide polymorphisms (SNPs) of the HLA-G gene and childhood IgAN. Methods : The authors analyzed and compared $HLA-G$ gene SNPs (rs1736936 and rs2735022) in 174 patients with childhood IgAN and in 438 healthy controls. In addition, IgAN patients were dichotomized and compared with respect to proteinuria (< and >$4mg/m^2/hour$), the presence or absence of podocyte foot process effacement, and the presence of pathologically early and advanced disease markers such as interstitial fibrosis, tubular atrophy, or global sclerosis. Results : No significant SNP frequency differences were observed for the $HLA-G$ gene between IgAN patients and the control group. Moreover, no significantly associated SNP was observed with the presence of proteinuria, podocyte foot process effacement, or pathologically advanced markers. However, the haplotype, composed of rs1736936 and rs2735022, showed a significant association with the susceptibility to develop childhood IgAN (haplotype T/C: dominant model, $P$=0.049; haplotype C/T: recessive model, $P$=0.030). Conclusion : Our results indicate that rs1736936 and rs2735022 as the $HLA-G$ gene promoter haplotype might be associated with the susceptibility to develop childhood IgAN in the Korean population.

Studies on Combining Ability and Inheritance of Major Agronomic Characters in Naked Barley (과맥의 주요형질에 대한 조합능력 및 유전에 관한 연구)

  • Kyung-Soo Min
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.23 no.2
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    • pp.1-24
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    • 1978
  • To obtain basic information on the breeding of early maturing, short culm naked-barley varieties, the following 10 varieties, Ehime # 1, Shikoku #42, Yamate hadaka, Eijo hadaka, Kagawa # 1, Jangjubaeggwa, Baegdong, Cheongmaeg, Seto-hadaka and Mokpo #42 were used in diallel crosses in 1974. Heading date, culm length and grain yield per plant for the parents, $F_1's$ and $F_2's$ of the 10X10 partial diallel crosses were measured in 1976 for analysis of their combining ability, heritability and inheritance. The results obtained are summarized below; 1. Heritabilities in broad sense for heading date, culm length and grain yield per plant were 0.7831, 0.7599 and 0.6161, respectively. Narrow sense heritabilities for heading date were 0.3972 in $F_1$ and 0.7789 in $F_2$ and for culm length 0.6567 in $F_1$ and 0.6414 in $F_2.$ These values suggest that earliness and culm length could be successfully selected for in the early generations. Narrow sense heritability for grain yield was 0.3775 in $F_1$ and 0.4170 in $F_2.$ 2. GCA effects of the $F_1$ and $F_2$ generations for days to heading were high in the early direction for early-heading varieties, while for late-heading varieties the GCA effects were high in the late direction. Absolute values for GCA effects in $F_1$ were higher than in $F_2.$ SCA effects of the $F_1$ and $F_2$ generations were high in the early-heading direction for Shikoku # 42 x Mokpo # 42, Ehime # 1 x Yamate hadaka, Shikoku # 42 x Yamate hadaka and Shikoku #42 x Eijo hadaka. 3. The GCA effects for culm length in the $F_1$ and $F_2$ generations for tall varieties were high in the tall direction while short varieties were high in the short direction. Absolute values for the GCA effects in $F_1$ were higher than in $F_2.$ SCA effects were high in the short direction for the combinations of Mokpo # 42 with Ehime # 1, Yamate had aka and Eijo hadaka. 4. The GCA effects for grain yields per plant in the $F_1$ and $F_2$ generations for varieties with high yields per plant were high in the high yielding direction, while varieties with low yields per plant were high in the low yielding direction. Absolute values of the $F_1$ GCA effects were higher than the $F_2$ effects. The combinations with high SCA effects were Mokpo # 42 x Shikoku # 42, Mokpo # 42 x Seto hadaka and Mokpo # 42 x Cheongmaeg. 5. Mean heading dates of the $F_1$ and $F_2$ generations were earlier than those of mean mid-parent. Mean heading date of the $F_1$ generation was earlier than the $F_2$ generation. Crosses involving early-heading varieties showed a greater $F_1, $ mid-parent difference than crosses involving late-heading varieties. 6. Heading date was controlled by a partial dominance effect. Nine varieties excluding Mokpo # 42 showed allelic gene action. Ehime # 1, Shikoku # 42, Kagawa # 1 and Mokpo # 42 were recessive to the other tested varieties. 7. The $F_2$ segregations of the 45 crosses for days to heading showed that 33 cosses were of such complexity that they could not be explained by simple genetic inheritance. One cross showed a 3 : 1 ratio where earliness was dominant. Another cross showed a 3 : 1 ratio where lateness was dominant. Four other crosses showed a 9 : 7 ratio for earliness while six crosses showed a 9 : 7 ratio for lateness. 8. Many transgressive segregants for earliness were found in the following crosses; Eijo hadaka x Baegdong, Ehime # 1 x Seto hadaka, Yamate had aka x Kagawa # 1, Kagawa # 1 x Sato hadaka, Shikoku # 42 x Kagawa # 1, Ehime # 1 x Kagawa # 1, Ehime # 1 x Shikoku # 42, Ehime # 1 x Eijo hadaka. 9. Mean culm length of the F, and F. generations were usually taller than the mid-parent where tall parent were used. These trends were high in the short varieties, but low in the tall varieties. 10. Culm length was controlled by partial dominace which was gonverned by allelic gene(s). Culm length showed a high degree of control by additive genes. Mokpo # 42 was recessive while Baegdong was dominant. 11. The F_2 frequency for culm length was in large part normally distributed around the midparent value. However, some combinations showed transgressive segregation for either tall or short culm length. From combinations between medium tall varieties, Ehime # 1, Shikoku # 42, Eijo hadaka and Seto hadaka, many short segregants could be found. 12. Mean grain yields per plant of the F_1 and F_2 generations were 6% and 5% higher than those of mid-parents, respectively. The varieties with high yields per plant showed a low rate of yield increase in their F_1's and F_2's while the varieties with low yields per plant showed a high rate of yield increase in their F_1's and F_1's. 13. Grain yields per plant showed over-dominnee effects, governed by non-allelic genes. Mokpo # 42 showed recessive genetic control of grain yield per plant. It remains difficult to clarify the inheritance of grain yields per plant from these data.

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Genetic Analysis of Shattering Habit and Some Quantitative Characters in Sesame (참깨의 탈립성 및 앙적형질에 대한 유전분석)

  • Kim, Dong-Hwi;Kang, Chul-Whan;Shim, Kang-Bo;Park, Chang-Hwan;Lee, Sung-Woo
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.52 no.2
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    • pp.198-203
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    • 2007
  • This study was carried out to obtain basic informations for gene action of quantitative characters including shattering resistance. The parental varieties used for $5{\times}5$ half diallel crosses were 'Yangbaek' and 'Ansan' of normal type, 'Suwon177' and 'Suwon195' of placenta adhesion type (PA) and 'SIG960320-5-1-1' of indehiscent type (ID). PA and ID type are shattering-resistant sesames, and Yangbaek and Ansan are shattering sesames. All the characters were sufficient to the assumption for diallel analysis in this experiment. Over dominance was exhibited by the number of capsules per plant, while partial dominance by plant height, capsule setting stem length, grain yield per plant and shattering rate, complete dominance by the number of branches per plant. Additive effect was higher than dominance in shattering rate. High shattering rate was dominant over low shattering rate. Suwon 195, shattering resistant sesame, showed to have the many recessive genes which reduced the shattering rate of sesame seed. Broad sense heritability for all the characters was more than 0.8. Narrow sense heritability for the number of branches per plant, the number of capsules per plant, grain yield per plant and shattering rate was 0.45 to 0.63, and plant height and capsule setting stem length was more than 0.8.

Meta-Analysis of the Association between H63D and C282Y Polymorphisms in HFE and Cancer Risk

  • Zhang, Meng;Xiong, Hu;Fang, Lu;Lu, Wei;Wu, Xun;Wang, Yong-Qiang;Cai, Zhi-Ming;Wu, Song
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.11
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    • pp.4633-4639
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    • 2015
  • Background: Previous studies suggested that the H63D and C282Y polymorphisms in the HFE genes were susceptible to many cancer types, nevertheless, the present results were inconclusive. Thus, the present study was aimed to evaluate the association between the HFE polymorphisms (H63D and C282Y) and cancer risk via meta-analysis. Materials and Methods: We retrieved PubMed, Google Scholar, Embase and Web of Science databases for all eligible studies up to April 1, 2015. All the statistical analysis was conducted by STATA 12.0. Results: Finally, a total of 20 publications including 24 case-control studies, comprising 6,524 cases and 31,080 controls for HFE-C282Y polymorphism and 19 publications including 21 case control studies, comprising 5,648 cases and 14,257 controls for HFE-H63D polymorphism were enrolled in our analysis. An increased risk for overall cancer risk was identified in HFE-H63D polymorphism under allele contrast (D vs H: OR=1.153; 95%CI=1.031-1.289, Pheterogeneity=0.002), homozygotes vs wide type (DD vs HH: OR=1.449; 95%CI=1.182-1.777, Pheterogeneity=0.391), dominant model (DD+HD vs HH: OR=1.145; 95%CI=1.007-1.301, Pheterogeneity=0.002) and recessive model (DD vs HD+HH: OR=1.416 ; 95%CI=1.156-1.735, Pheterogeneity=0.549), as well as HFE-C282Y under homozygotes vs wide type (YY vs CC: OR=1.428, 95%CI=1.017-2.006, Pheterogeneity=0.220). In addition, in the stratified analysis by cancer type, an increased risk was identified in hepatocellular carcinoma and breast cancer in C282Y polymorphism, as well as pancreatic cancer in H63D polymorphism, whereas a decreased risk of colorectal cancer was identified in C282Y polymorphism. Conclusions: Present study suggested that H63D and C282Y polymorphisms associated with an increased risk of overall cancer. Nevertheless, well-designed study with large sample size will be continued on this issue of interest.

Prenatal diagnosis of the spinal muscular atrophy type I using genetic information from archival slides and paraffin-embedded tissues

  • Choi, Soo-Kyung;Cho, Eun-Hee;Kim, Jin-Woo;Park, So-Yeon;Kim, Young-Mi;Ryu, Hyun-Mee;Kang, Inn-Soo;Jun, Jung-Young;Chi, Je-G.
    • Journal of Genetic Medicine
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    • v.2 no.2
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    • pp.53-57
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    • 1998
  • Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.

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Mad1p, a Component of the Spindle Assembly Checkpoint in Fission Yeast, Suppresses a Novel Septation-defective Mutant, sun1, in a Cell Division Cycle

  • Kim In G.;Rhee Dong K.;Jeong Jae W.;Kim Seong C.;Won Mi S.;Song Ki W.;Kim Hyong B.
    • Proceedings of the Microbiological Society of Korea Conference
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    • 2002.10a
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    • pp.162-172
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    • 2002
  • Schizosaccharomyces pombe is suited for the study of cytokinesis as it divides by forming a septum in the middle of the cell at the end of mitosis. To enhance our understanding of the cytokinesis, we have carried out a genetic screen for temperature-sensitive S. pombe mutants that show defects in septum formation and cell division. Here we present the isolation and characterization of a new temperature-sensitive mutant, sun1(septum uncontrolled), which undergoes uncontrolled septation during cell division cycle at restrictive temperature $(37^{\circ}C)$. In sun1 mutant, actin ring and septum are positioned at random locations and angles, and nuclear division cycle continues. These observations suggest that the sun] gene product is required for the proper placement of the actin ring as well as precise septation. The sun] mutant is monogenic recessive mutation unlinked to previously known various cdc genes of S. pombe. In a screen for $sunl^+$ gene to complement the sun] mutant, we have cloned a gene, $susl^+$(suppressor of sun1 mutant), that encodes a protein of 689 amino acids. The predicted amino acid sequence of $susl^+$ gene is similar to the human hMadlp and Saccharomyces cerevisiae Mad1p, a component of the spindle checkpoint in eukaryotic cells. The null mutant of $susl^+$ gene grows normally at various temperatures and has the increased sensitivity to anti-microtubule drug, while $susl^+$ mutant shows no sensitivity to microtubule destabilizing drugs. The putative S. pombe Sus1p directly interacts with S. pombe Mad2p in yeast two-hybrid assays. These data suggest that the newly isolated susr gene encodes S. pombe Mad1p and suppresses sun] mutant defective in controlled septation in a cell division cycle.

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Isolation and Characterization of Aspergillus nidulans Mutants Which Undergo Sexual Development in Light Exposure (빛의 존재하에서도 유성분화를 하는 Aspergillus nidulans의 돌연변이체 분리 및 분석)

  • Min, Jung-Youl;Kim, Hye-Ryun;Han, Kap-Hoon;Han, Dong-Min
    • Korean Journal of Microbiology
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    • v.43 no.2
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    • pp.77-82
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    • 2007
  • In a homothallic ascomycete Aspergillus nidulans, sexual development is inhibited by various environmental stresses such as acetate medium, visible light and high osmolarity conditions. In order to study the genes involved in this stress-related regulatory network, we first attempted to isolate mutants that could develop cleistothecia even in the presence of any of those stresses including intensive visible light. More than 10,000 mutants were screened and 167 mutants were analyzed. Among them, 152 mutants underwent sexual development under the single stress condition of either high osmotic, high acetate or light condition but no sexual development in more than two stresses. Six mutants can produce cleistothecia under light or acetate stress but not in salt stress. Moreover, 6 mutants showed the ability to develop cleistothecia under the light but not under the acetate or osmo-stress. The mutants were revealed to have independent single gene mutation and grouped into different complementation groups (silA-F). The mutant alleles were all recessive to that of wild type. The light responsiveness of development implies the existence of delicate regulation process including reception and translocation of light signaling and determination of development.