• Title/Summary/Keyword: Polymorphism chromosome

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Single Nucleotide Polymorphism Marker Discovery from Transcriptome Sequencing for Marker-assisted Backcrossing in Capsicum

  • Kang, Jin-Ho;Yang, Hee-Bum;Jeong, Hyeon-Seok;Choe, Phillip;Kwon, Jin-Kyung;Kang, Byoung-Cheorl
    • Horticultural Science & Technology
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    • v.32 no.4
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    • pp.535-543
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    • 2014
  • Backcross breeding is the method most commonly used to introgress new traits into elite lines. Conventional backcross breeding requires at least 4-5 generations to recover the genomic background of the recurrent parent. Marker-assisted backcrossing (MABC) represents a new breeding approach that can substantially reduce breeding time and cost. For successful MABC, highly polymorphic markers with known positions in each chromosome are essential. Single nucleotide polymorphism (SNP) markers have many advantages over other marker systems for MABC due to their high abundance and amenability to genotyping automation. To facilitate MABC in hot pepper (Capsicum annuum), we utilized expressed sequence tags (ESTs) to develop SNP markers in this study. For SNP identification, we used Bukang $F_1$-hybrid pepper ESTs to prepare a reference sequence through de novo assembly. We performed large-scale transcriptome sequencing of eight accessions using the Illumina Genome Analyzer (IGA) IIx platform by Solexa, which generated small sequence fragments of about 90-100 bp. By aligning each contig to the reference sequence, 58,151 SNPs were identified. After filtering for polymorphism, segregation ratio, and lack of proximity to other SNPS or exon/intron boundaries, a total of 1,910 putative SNPs were chosen and positioned to a pepper linkage map. We further selected 412 SNPs evenly distributed on each chromosome and primers were designed for high throughput SNP assays and tested using a genetic diversity panel of 27 Capsicum accessions. The SNP markers clearly distinguished each accession. These results suggest that the SNP marker set developed in this study will be valuable for MABC, genetic mapping, and comparative genome analysis.

Extensive Chromosomal Polymorphism Revealed by Ribosomal DNA and Satellite DNA Loci in 13 Citrus Species

  • Kang, Sung-Ku;Lee, Dong-Hoon;An, Hyun-Ju;Park, Jae-Ho;Yun, Su-Hyun;Moon, Young-eel;Bang, Jae-Wook;Hur, Yoonkang;Koo, Dal-Hoe
    • Molecules and Cells
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    • v.26 no.3
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    • pp.319-322
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    • 2008
  • Little is known about the chromosomal variability and polymorphism existing in mitotic chromosomes of Citrus, mainly due to lack of reliable chromosomal markers and small chromosome size. To test the hypothesis of chromosomal polymorphism and provide the foundation of the genome organization in the Citrus cultivars, we have developed molecular cytogenetic markers for 13 Citrus species collected from Jeju island, Korea. In this study, we demonstrated that the chromosomal locations of cytogenetic markers are quite variable and extremely polymorphic, in contrast to the previous studies. The data obtained in this study will be of utmost importance in cytological systematics and karyotyping of the Citrus species.

Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy

  • Park, Young-Mi;Lim, Young-Min;Kim, Dae-Seong;Lee, Jong-Keuk;Kim, Kwang-Kuk
    • Genomics & Informatics
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    • v.9 no.2
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    • pp.64-68
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    • 2011
  • Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought to identify a genetic basis for MA. Given the predominance of MA in males, we focused on candidate neurological disease genes located on the X chromosome, selecting two X-linked candidate genes, androgen receptor (AR ) and ubiquitin-like modifier activating enzyme 1 (UBA1). Screening for genetic variants using patients' genomic DNA revealed three known genetic variants in the coding region of the AR gene: one nonsynonymous single-nucleotide polymorphism (SNP; rs78686797) encoding Leu57Gln, and two variants of polymorphic trinucleotide repeat segments that encode polyglutamine (CAG repeat; rs5902610) and polyglycine (GGC repeat; rs3138869) tracts. Notably, the Leu57Gln polymorphism was found in two patients with MA from 24 MA patients, whereas no variants were found in 142 healthy male controls. However, the numbers of CAG and GGC repeats in the AR gene were within the normal range. These data suggest that the Leu57Gln polymorphism encoded by the X-linked AR gene may contribute to the development of MA.

Y-Single Nucleotide Polymorphisms Diversity in Chinese Indigenous Horse

  • Han, Haoyuan;Zhang, Qin;Gao, Kexin;Yue, Xiangpeng;Zhang, Tao;Dang, Ruihua;Lan, Xianyong;Chen, Hong;Lei, Chuzhao
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.8
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    • pp.1066-1074
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    • 2015
  • In contrast to high genetic diversity of mitochondrial DNA (mtDNA), equine Y chromosome shows extremely low variability, implying limited patrilines in the domesticated horse. In this study, we applied direct sequencing and restriction fragment length polymorphism (RFLP) methods to investigate the polymorphisms of 33 Y chromosome specific loci in 304 Chinese indigenous horses from 13 breeds. Consequently, two Y-single nucleotide polymorphisms (SNPs) (Y-45701/997 and Y-50869) and one Y-indel (Y-45288) were identified. Of those, the Y-50869 (T>A) revealed the highest variation frequency (24.67%), whereas it was only 3.29% and 1.97% in Y-45288 (T/-) and Y-45701/997 (G>T) locus, respectively. These three mutations accounted for 27.96% of the total samples and identified five Y-SNP haplotypes, demonstrating genetic diversity of Y chromosome in Chinese horses. In addition, all the five YSNP haplotypes were shared by different breeds. Among 13 horse breeds analyzed, Balikun horse displayed the highest nucleotide diversity (${\pi}=5.6{\times}10^{-4}$) and haplotype diversity (h = 0.527), while Ningqiang horse showed the lowest nucleotide diversity (${\pi}=0.00000$) and haplotype diversity (h = 0.000). The results also revealed that Chinese horses had a different polymorphic pattern of Y chromosome from European and American horses. In conclusion, Chinese horses revealed genetic diversity of Y chromosome, however more efforts should be made to better understand the domestication and paternal origin of Chinese indigenous horses.

Chromosome 3p Deletions in Korean Head and Neck Carcinomas (한국인 두경부암 환자에서 제3번 염색체 단완의 결손)

  • Son Mi-Na;Yoo Young-A;Cho Zeung-Keun;Choi Kun;Choi Jong-Wook;Kim Yeul-Hong;Kim Jun-Suk
    • Korean Journal of Head & Neck Oncology
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    • v.14 no.1
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    • pp.20-26
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    • 1998
  • Objectives: Deletion in the short arm of chromosome 3 is common in many human cancers, including sporadic and hereditary renal carcinomas, small cell lung carcinomas, non-small cell lung carcinomas, and carcinomas of the ovary, breast, and cervix. A high frequency of chromosomal aberrations in head and neck cancers involving chromosome 3p has also been reported. These findings suggest that multiple tumor suppressor genes may be present on the short arm of chromosome 3. Materials and Methods: To investigate the possibility of chromosome 3p deletions in the Korean head and neck cancer patients, we applied a polymerase chain reaction(PCR)-based Restriction Fragment Length Polymorphism analysis to the DNA samples of matched normal mucosa and head and neck squamous cell carcinomas from 19 patients. Results: In the 19 normal samples heterozygosity at the polymorphic loci varied: 6 at the D3F15S2 locus(on telomeric 3p21), 2 at the D3S32 locus(on centromeric 3p21), and 4 at the THRB locus(on centromeric 3p24). In 12 matched carcinoma specimens, LOH(loss of heterozygosity) was observed at D3F15S2 in 1 of 6(17%), D3S32 in 1 of 2(50%), and at THRB in 2 of 4 cases(50%). Conclusion: The frequency of chromosome 3p deletion in the Korean head and neck carcinomas appear as other country did.

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Chromosome analysis by GTG banding technique in the DongGyeongi dogs (GTG banding에 의한 경주지방의 무미 또는 단미 형태의 개(경주개 동경이)의 핵형분석)

  • Choi, Seog-Kyu;Sung, Ki-Chang;Lee, Eun-Woo;Park, Chang-Eun
    • Korean Journal of Veterinary Service
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    • v.33 no.2
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    • pp.207-211
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    • 2010
  • None of the numerous published canis idiogram and karyotypes has yet been generally accepted as a standard one because the dog has 76 acrocentric autosomes of similar size and shape. The karyotypes of DongGyeongi dog were analysed by conventional trypsin/Giemsa staining (GTG-banding techniques), and were compared with one another. There were no variations in karyotypes which were analysed by conventional GTG-banding techniques, but differences were observed in G-banding patterns with sapsaree (or canis familiaris strains). It is not clear that these disagreements in G-banding patterns between strains of dog were caused by chromosome polymorphism or a difference in interpretation.

Identification of markers associated with estimated breeding value and horn colour in Hungarian Grey cattle

  • Zsolnai, Attila;Kovacs, Andras;Kaltenecker, Endre;Anton, Istvan
    • Animal Bioscience
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    • v.34 no.4
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    • pp.482-488
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    • 2021
  • Objective: This study was conducted to estimate effect of single nucleotide polymorphisms (SNP) on the estimated breeding value of Hungarian Grey (HG) bulls and to find markers associated with horn colour. Methods: Genotypes 136 HG animals were determined on Geneseek high-density Bovine SNP 150K BeadChip. A multi-locus mixed-model was applied for statistical analyses. Results: Six SNPs were identified to be associated (-log10P>10) with green and white horn. These loci are located on chromosome 1, 3, 9, 18, and 25. Seven loci (on chromosome 1, 3, 6, 9, 10, 28) showed considerable association (-log10P>10) with the estimated breeding value. Conclusion: Analysis provides markers for further research of horn colour and supplies markers to achieve more effective selection work regarding estimated breeding value of HG.

Study on chromosomes survey of Korea native dogs (국내 토종개의 염색체 조사에 관한 연구)

  • Park, Chang-Eun
    • Korean Journal of Veterinary Service
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    • v.34 no.3
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    • pp.291-296
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    • 2011
  • The karyotype of the domestic dog is widely accepted as one of the difficult mammalian karyotypes to work. In contrast to many other animals, knowledge about the canine karyotype is quite sparse. The dog has a total of 78 chromosomes; all 76 autosomes are acrocentric in morphology and show only a gradual decrease in length. But appear to be quite small and difficult to identify unambiguously. To purchased standardization of chromosome in Korea native dog, there were analyzed by conventional trypsin/Giemsa staining (GTG-banding techniques), and were compared with 4, 6, 8, 11, 13, 17 chromosome. There were no variations in karyotypes which were analyzed by conventional GTG-banding techniques, but differences were observed in G-banding patterns with Sapsaree, Jindo, Gyeongju DongGyeong dogs, Welshi-Corgi. It is not clear that these disagreements in G-banding patterns between strains of dog were caused by chromosome polymorphism or a difference in interpretation. Comparative analysis of the distribution patterns of conserved segments defined by dog paints in the genomes of the Korea native dogs demonstrates that their differences in the karyotypes of these three species could have resulted from acrocentric banding patterns.

Detection of copy number variation and selection signatures on the X chromosome in Chinese indigenous sheep with different types of tail

  • Zhu, Caiye;Li, Mingna;Qin, Shizhen;Zhao, Fuping;Fang, Suli
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.9
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    • pp.1378-1386
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    • 2020
  • Objective: Chinese indigenous sheep breeds can be classified into the following three categories by their tail morphology: fat-tailed, fat-rumped and thin-tailed sheep. The typical sheep breeds corresponding to fat-tailed, fat-rumped, and thin-tailed sheep are large-tailed Han, Altay, and Tibetan sheep, respectively. Detection of copy number variation (CNV) and selection signatures provides information on the genetic mechanisms underlying the phenotypic differences of the different sheep types. Methods: In this study, PennCNV software and F-statistics (FST) were implemented to detect CNV and selection signatures, respectively, on the X chromosome in three Chinese indigenous sheep breeds using ovine high-density 600K single nucleotide polymorphism arrays. Results: In large-tailed Han, Altay, and Tibetan sheep, respectively, a total of six, four and 22 CNV regions (CNVRs) with lengths of 1.23, 0.93, and 7.02 Mb were identified on the X chromosome. In addition, 49, 34, and 55 candidate selection regions with respective lengths of 27.49, 16.47, and 25.42 Mb were identified in large-tailed Han, Altay, and Tibetan sheep, respectively. The bioinformatics analysis results indicated several genes in these regions were associated with fat, including dehydrogenase/reductase X-linked, calcium voltage-gated channel subunit alpha1 F, and patatin like phospholipase domain containing 4. In addition, three other genes were identified from this analysis: the family with sequence similarity 58 member A gene was associated with energy metabolism, the serine/arginine-rich protein specific kinase 3 gene was associated with skeletal muscle development, and the interleukin 2 receptor subunit gamma gene was associated with the immune system. Conclusion: The results of this study indicated CNVRs and selection regions on the X chromosome of Chinese indigenous sheep contained several genes associated with various heritable traits.

Electrophoretic karyotype of Flammulina velutipes and its variation among cultivars (팽이버섯의 핵형분석과 균주 사이의 핵형 다양성)

  • Lee, Song Hee;Lee, Mi-Kyoung;Kim, Na-Ri;Lee, Chang-Yun;Lee, Hyun-Sook
    • Journal of Mushroom
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    • v.12 no.1
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    • pp.63-66
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    • 2014
  • The karyotype of F. velutipes Korean cultivar, Fv 3-6, was compared with those of Japanese cultivars, Fv 0-1, Fv 1-5, Fv 11-1, by CHEF gel electrophoresis. The Korean cultivar, Fv 3-6, showed the difference from the three Japanese cultivars in number and size of chromosomes; the Fv 3-6 had two and one more chromosomes then Fv 0-1 and Fv 11-4, and Fv 1-5 had, respectively. The karyotyping by CHEF gel electrophoresis is quite suitable to define new Korean cultivars against Japanese cultivars.