• Title/Summary/Keyword: Specific loci

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The TGFβ→TAK1→LATS→YAP1 Pathway Regulates the Spatiotemporal Dynamics of YAP1

  • Min-Kyu Kim;Sang-Hyun Han;Tae-Geun Park;Soo-Hyun Song;Ja-Youl Lee;You-Soub Lee;Seo-Yeong Yoo;Xin-Zi Chi;Eung-Gook Kim;Ju-Won Jang;Dae Sik Lim;Andre J. van Wijnen;Jung-Won Lee;Suk-Chul Bae
    • Molecules and Cells
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    • v.46 no.10
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    • pp.592-610
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    • 2023
  • The Hippo kinase cascade functions as a central hub that relays input from the "outside world" of the cell and translates it into specific cellular responses by regulating the activity of Yes-associated protein 1 (YAP1). How Hippo translates input from the extracellular signals into specific intracellular responses remains unclear. Here, we show that transforming growth factor β (TGFβ)-activated TAK1 activates LATS1/2, which then phosphorylates YAP1. Phosphorylated YAP1 (p-YAP1) associates with RUNX3, but not with TEAD4, to form a TGFβ-stimulated restriction (R)-point-associated complex which activates target chromatin loci in the nucleus. Soon after, p-YAP1 is exported to the cytoplasm. Attenuation of TGFβ signaling results in re-localization of unphosphorylated YAP1 to the nucleus, where it forms a YAP1/TEAD4/SMAD3/AP1/p300 complex. The TGFβ-stimulated spatiotemporal dynamics of YAP1 are abrogated in many cancer cells. These results identify a new pathway that integrates TGFβ signals and the Hippo pathway (TGFβ→TAK1→LATS1/2→YAP1 cascade) with a novel dynamic nuclear role for p-YAP1.

Mapping and Race Specific Reaction of the Resistance Gene Pi45(t) in Rice (벼 도열병 저항성 유전자 Pi45(t)의 균계 특이적 반응과 고밀도지도 작성)

  • Kim, Dong-Min;Ju, Hong-Guang;Yang, Paul;Han, Seong-Sook;Roh, Jae-Hwan;Ahn, Sang-Nag
    • Korean Journal of Breeding Science
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    • v.43 no.1
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    • pp.42-49
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    • 2011
  • QTL analysis for blast resistance was carried out using 140 $BC_3F_3$ lines derived from a cross between Ilpum as a recurrent parent and Moroberekan as a donor parent. 140 $BC_3F_3$ lines with the parents were inoculated with nine blast isolates. To identify QTLs for resistance to nine blast isolates, 134 SSR markers showing polymorphisms between the parents were genotyped for the 140 $BC_3F_3$ lines. A total of 17 resistance QTLs to nine isolates were detected on chromosomes 2, 3, 4, 6, 7, 9 and 10. The phenotypic variance explained by each QTL ranged from 8.2% to 26.4%. The Moroberekan alleles contributed the positive effect at these 17 QTL loci. In a previous study, the QTL, Pi45(t) for durable resistance to blast was identified using a sequential planting method. To know the relationship between Pi45(t) and the isolate-specific resistance gene, an $F_2$ population was developed from a cross between Ilpum and an introgression line harboring Pi45(t). $F_3$ lines segregating for the Pi45(t) were inoculated to three isolates. $F_3$ lines from the $F_2$ plants with the Moroberekan segment at the target region showed resistance to two isolates. This result seems to indicate that the Pi45(t) and the isolate-specific resistance gene are tightly linked or the resistance is controlled by the same gene(s). The markers linked to genes controlling blast resistance would be useful in developing blast resistance lines in the breeding program.

Novel Nucleotide Variations, Haplotypes Structure and Associations with Growth Related Traits of Goat AT Motif-Binding Factor (ATBF1) Gene

  • Zhang, Xiaoyan;Wu, Xianfeng;Jia, Wenchao;Pan, Chuanying;Li, Xiangcheng;Lei, Chuzhao;Chen, Hong;Lan, Xianyong
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.10
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    • pp.1394-1406
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    • 2015
  • The AT motif-binding factor (ATBF1) not only interacts with protein inhibitor of activated signal transducer and activator of transcription 3 (STAT3) (PIAS3) to suppress STAT3 signaling regulating embryo early development and cell differentiation, but is required for early activation of the pituitary specific transcription factor 1 (Pit1) gene (also known as POU1F1) critically affecting mammalian growth and development. The goal of this study was to detect novel nucleotide variations and haplotypes structure of the ATBF1 gene, as well as to test their associations with growth-related traits in goats. Herein, a total of seven novel single nucleotide polymorphisms (SNPs) (SNP 1-7) within this gene were found in two well-known Chinese native goat breeds. Haplotypes structure analysis demonstrated that there were four haplotypes in Hainan black goat while seventeen haplotypes in Xinong Saanen dairy goat, and both breeds only shared one haplotype (hap1). Association testing revealed that the SNP2, SNP5, SNP6, and SNP7 loci were also found to significantly associate with growth-related traits in goats, respectively. Moreover, one diplotype in Xinong Saanen dairy goats significantly linked to growth related traits. These preliminary findings not only would extend the spectrum of genetic variations of the goat ATBF1 gene, but also would contribute to implementing marker-assisted selection in genetics and breeding in goats.

Determination of Genetic Diversity among Korean Hanwoo Cattle Based on Physical Characteristics

  • Choi, T.J.;Lee, S.S.;Yoon, D.H.;Kang, H.S.;Kim, C.D.;Hwang, I.H.;Kim, C.Y.;Jin, X.;Yang, C.G.;Seo, K.S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.9
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    • pp.1205-1215
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    • 2012
  • This study was conducted to establish genetic criteria for phenotypic characteristics of Hanwoo cattle based on allele frequencies and genetic variance analysis using microsatellite markers. Analysis of the genetic diversity among 399 Hanwoo cattle classified according to nose pigmentation and coat color was carried out using 22 microsatellite markers. The results revealed that the INRA035 locus was associated with the highest $F_{is}$ (0.536). Given that the $F_{is}$ value for the Hanwoo INRA035 population ranged from 0.533 (white) to 1.000 (white spotted), this finding was consistent with the loci being fixed in Hanwoo cattle. Expected heterozygosities of the Hanwoo groups classified by coat colors and degree of nose pigmentation ranged from $0.689{\pm}0.023$ (Holstein) to $0.743{\pm}0.021$ (nose pigmentation level of d). Normal Hanwoo and animals with a mixed white coat showed the closest relationship because the lowest $D_A$ value was observed between these groups. However, a pair-wise differentiation test of $F_{st}$ showed no significant difference among the Hanwoo groups classified by coat color and degree of nose pigmentation (p<0.01). Moreover, results of the neighbor-joining tree based on a $D_A$ genetic distance matrix within 399 Hanwoo individuals and principal component analyses confirmed that different groups of cattle with mixed coat color and nose pigmentation formed other specific groups representing Hanwoo genetic and phenotypic characteristics. The results of this study support a relaxation of policies regulating bull selection or animal registration in an effort to minimize financial loss, and could provide basic information that can be used for establishing criteria to classify Hanwoo phenotypes.

Genetic Vadation and Systematics of the Sticklebacks (Pisces, Gasterosteidae) in Korea (한국산 큰가시고기와 어류의 지리적 변이 및 계통적 유연관계)

  • 양서영;민미숙
    • The Korean Journal of Zoology
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    • v.33 no.4
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    • pp.499-508
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    • 1990
  • Surveys of elecirophoretic variations in isozymes and proteins encoded by 25 persumtive loci were conducted to estimate the degree of genic variation and to assess species recognition for three species of the Family Gasterosteidae (Pisces) in Korea. The average degree of genic variation of Gasterosteus aculeatus was HD = 0.086, HG = 0.084, and P =36% and it was similar to Pungitius sinensis (HD = 0.080, HG = 0.091, P = 29%). But P.kaibarae was less variable than these species (HD = 0.034; HG = 0.034, P = 13%). The average genetic similarities among the populations in each species of Gasterosteus aculeatus pungitius sinensis and P. kaibarae were S = 0.963, S = 0.953 and S = 0.800 respectively.Yongchon and Kyongiu populations of P. kaibarae were genetically remote from the rest of the conspecific populations (S = 0.690). Chae (1988) also observed morphological differences between them. The value of genetic similariiy coefficients of S = 0.606 between P. sinensis and P. kaibarae is low enough to consider as specific level of genetic difference, but moderate rate of hybridization (44%) between them at a synpatric area of Kangnung indicates that isolating mechanism is incomplete. Therefore it is concluded that P. sinensis and P. kaffarae are semispecitic status. Intergeneric genetic similarities between the genus Gasrerosteus and Pungitius were S = 0.052 and this value is the lowest estimate up to date in freshwater fishes.

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Histone H3 Lysine Methylation in Adipogenesis (Adipogenesis에서 히스톤 H3 lysine methylation)

  • Jang, Younghoon
    • Journal of Life Science
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    • v.30 no.8
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    • pp.713-721
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    • 2020
  • Adipogenesis as a model system is needed to understand the molecular mechanisms of human adipocyte biology and the pathogenesis of obesity, diabetes, and other metabolic syndromes. Many relevant studies have been conducted with a focus on gene expression regulation and intracellular signaling relating to Peroxisome proliferator-activated receptor gamma (PPARγ) and CCAAT/enhancer-binding protein alpha (C/EBPα), which are master adipogenic transcription factors. However, epigenome regulation of adipogenesis by epigenomic modifiers or histone mutations is not fully understood. Histone methylation is one of the major epigenetic modifications on gene expression in mammals, and histone H3 lysine methylation (H3Kme) in particular implicates cell differentiation during various tissue and organ development. During adipogenesis, cell type-specific enhancers are marked by histone H3K4me1 with the active enhancer mark H3K27ac. Mixed-lineage leukemia 4 (MLL4) is a major H3K4 mono-methyltransferase on the adipogenic enhancers of PPARγ and C/EBPα loci. Thus, MLL4 is an important epigenomic modifier for adipogenesis. The repressive mark H3K27me3 is mediated by the enzymatic subunit Enhancer zeste homolog 2 (EZH2) of the polycomb repressive complex 2. EZH2-mediated H3K27 tri-methylation on the Wnt gene increases adipogenesis because WNT signaling is a negative regulator of adipogenesis. This review summarizes current knowledge about the epigenomic regulation of adipogenesis by histone H3 lysine methylation which fundamentally regulates gene expression.

Correlation between Karyotype and Phenotype in Turner Syndrome (터너증후군의 핵형과 표현형간의 연관성)

  • Shim, Ye-Jee;Hwang, Young-Ju;Lee, Kun-Soo
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.67-73
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    • 2009
  • Purpose : In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical manifestations, and comorbidities of Turner syndrome patients in Kyungpook National University Hospital to compare them to the recent hypotheses about sex chromosome gene loci related to Turner symptoms. Materials and Methods : We identified the cytologic findings of 92 patients with Turner syndrome and the clinical findings of 62 patients among them. Results : 54.3 percent of patients had 45,X while 45.7 percent showed other karyotype combinations (45,X/46,XX, 45,X/46,XX/47,XXX, 46,X,del(Xp), 46,X,del(Xq), 45,X/46,X,del(Xq), 46,X,i(Xq), 45,X/46,X,i (Xq)). The Turner symptoms found included short neck, high arched palate, broad chest, Madelung deformity, short metacarpals, scoliosis, cubitus valgus, low hair line, webbed neck, edematous extremities, pigmented nevus, and sexual infantilism. The specific diseases associated Turner syndrome included renal abnormalities, congenital heart disease, hearing defects, diabetes mellitus, hyperlipidemia, and decreased bone density. The phenotype of the mosaicism group was milder than that of the monosomy group. In the case of 46,X,del(Xp) and 45,X/46,X,del(Xq) groups, all had skeletal abnormalities, but the 46,X,del(Xq) group had none. In the case of 46,X,del(Xp) group, all showed short statures and skeletal abnormalities, but no sexual infantilism was observed. In the case of 46,X,i(Xq) and 45,X/46,X,i(Xq) groups, they all showed delayed puberty and had primary amenorrhea. Conclusion : It is important to study karyotype-phenotype correlations in patients with Turner syndrome to obtain interesting information about the genotype-phenotype correlations related to the X chromosome.

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Genetic Variability Based on Tandem Repeat Numbers in a Genomic Locus of 'Candidatus Liberibacter asiaticus' Prevalent in North East India

  • Singh, Yanglem Herojit;Sharma, Susheel Kumar;Sinha, Bireswar;Baranwal, Virendra Kumar;Singh, N. Bidyananda;Chanu, Ngathem Taibangnganbi;Roy, Subhra S.;Ansari, Meraj A.;Ningombam, Arati;Devi, Ph. Sobita;Das, Ashis Kumar;Singh, Salvinder;Singh, K. Mamocha;Prakash, Narendra
    • The Plant Pathology Journal
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    • v.35 no.6
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    • pp.644-653
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    • 2019
  • The genetic variability of 'Candidatus Liberibacter asiaticus' (CLas) population associated with huanglongbing (HLB) disease of citrus in North Eastern (NE) region of India, a geographically locked region, and home for the diversity of many citrus species was analyzed on the basis of tandem repeat numbers (TRN) in variable CLIBASIA_01645 genomic loci. Fifty-five CLas strains sampled from different groves of NE Hill (NEH) region of India were in single amplicon group, but there was remarkable genetic variability in TRNs. The TRN in HLB-associated CLas strains varied from 0-21 and two novel repeat motifs were also identified. Among the NE population of CLas, TRN5 and TRN9 were most frequent (total frequency of 36.36%) followed by TRN4 (14.55%) and TRN6, TNR7 with a frequency of 12.73% each. Class II type CLas genotypes (5 < TRN ≤ 10) had highest prevalence (frequency of 60.00%) in the samples characterized in present study. Class I (TRN ≤ 5) genotypes were second highest prevalent (29.09%) in the NEH region. Further analysis of genetic diversity parameters using Nei's measure (H value) indicated wide genetic diversity in the CLas strains of NE India (H value of 0.58-0.86). Manipur CLas strains had highest genetic variability (0.86) as compared to Eastern, Southern and Central India. The R10 values (TRN ≤ 10/TRN > 10) of NE CLas population was 10.43 (73/7), higher from other regions of India. Present study conclusively reported the occurrence of high genetic variability in TRN of CLas population in North East Indian citrus groves which have evolved to adapt to the specific ecological niche.

Study of Genetic Diversity and Taxonomy of Genus Sorbus in Korea Using Random Amplified Polymorphic DNA (RAPD에 의한 한국내 마가목속 식물의 유전적 다양성과 분류학적 연구)

  • Park, So-Hye;Kim, Sea-Hyun;Seo, Hee-Won;Huh, Man-Kyu
    • Journal of Life Science
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    • v.17 no.4 s.84
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    • pp.470-475
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    • 2007
  • Genus Sorbus is a long lived woody species. Plants of this genus are primarily distributed patchy throughout Asia and Europe. Sorbus commixta is primarily distributed throughout Europe. Eastern Asian Sorbus species are regarded as very important herbal medicines in Korea and China. Random amplified polymorphic DNA (RAPD) was used to investigate the genetic variation and phylogenetic analysis of four species of this genus in Korea. Although some Korean populations of these species were isolated and patchily distributed, they exhibited a high level of genetic diversity. Twenty-six primers revealed 205 loci, of which 128 were polymorphic (62.4%). S. commixta showed the highest diversity (0.165), whereas S. aucuparia showed the lowest diversity (0.109). The estimated gene flow (Nm) was low high among intra-species (mean Nm=0.755). A similarity matrix based on the proportion of shared fragments (GS) was used to evaluate relatedness among species. The estimate of GS ranged from 0.786 to 0.963. The molecular data allowed us to resolve well-supported clades in Korean taxa and European species. An addition, especially, species-specific markers for genus Sorbus by RAPD analysis may be useful in germ-plasm classification and agricultural process of several taxa of this genus.

Genetic Variations of Candida glabrata Clinical Isolates from Korea using Multi-locus Sequence Typing (Multi-locus sequence typing을 이용한 한국에서 분리한 Candida glabrata 임상균주의 유전자 유형 분석)

  • Kang, Min Ji;Lee, Kyung Eun;Jin, Hyunwoo
    • Journal of Life Science
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    • v.30 no.2
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    • pp.122-128
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    • 2020
  • Although Candida albicans is the major fungal pathogen of candidemia, severe infections by non-albicans Candida (NAC) spp. have been increasing in recent years. Among NAC spp., C. glabrata has emerged as the second most common pathogen. However, few studies have been conducted to investigate its structure, epidemiology, and basic biology. In the present study, multi-locus sequence typing (MLST) was performed with a total of 102 C. glabrata clinical isolates that were isolated from various types of clinical specimen. For MLST, six housekeeping genes-FKS, LEU2, NMT1, TRP1, UGP1, and URA3-were amplified and sequenced. The results were analyzed using the C. glabrata database. Out of a total of 3,345 base-pair DNA sequences, 49 variable nucleotide sites were found, and the results showed that 12 different sequence types (ST) were identified from the 102 clinical isolates. The data also demonstrated that the undetermined ST1 was the most predominant ST in Korea. Further, seven undetermined STs (UST) containing UST2-8 were classified at specific loci. The data from this study may provide a fundamental database for further studies on C. glabrata, including its epidemiology and evolution. The data may also contribute to the development of novel antifungal agents and diagnostic tests.