• 제목/요약/키워드: Nucleotide Polymorphism

검색결과 947건 처리시간 0.029초

Reduction of slaughter age of Hanwoo steers by early genotyping based on meat yield index

  • Jeong, Chang Dae;Islam, Mahfuzul;Kim, Jong-Joo;Cho, Yong-Il;Lee, Sang-Suk
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제33권5호
    • /
    • pp.770-777
    • /
    • 2020
  • Objective: This study was conducted to determine early hereditary endowment to establish a short-term feeding program. Methods: Hanwoo steers (n = 140) were equally distributed into four groups (35/group) based on genetic meat yield index (MYI) viz. the greatest, great, low, and the lowest at Jukam Hanwoo farm, Goheung. All animals were fed in group pens (5 animals/pen) with similar feed depending on the growth stage. Rice straw was provided ad libitum, whereas concentrate was fed at 5.71 kg during the growing period (6 to 13 mo) and 9.4 kg during the fattening period (13 to 28 mo). Body weight (BW) was measured at two-month intervals, whereas carcass weight was determined at slaughtering at about 31 months of age. The Affymetrix Bovine Axiom Array 640K single nucleotide polymorphism (SNP) chip was used to determine the meat quantity-related gene in the blood. Results: After 6 months, the highest (p<0.05) BW was observed in the greatest MYI group (190.77 kg) and the lowest (p<0.05) in the lowest MYI group (173.51 kg). The great MYI group also showed significantly (p<0.05) higher BW than the lowest MYI group. After 16 and 24 months, the greatest MYI group had the highest BW gain (p<0.05) and were therefore slaughtered the earliest. Carcass weight was significantly (p<0.05) higher in the greatest and the great MYI groups followed by the low and the lowest MYI groups. Back-fat thickness in the greatest MYI group was highly correlated to carcass weight and marbling score. The SNP array analysis identified the carcass-weight related gene BTB-01280026 with an additive effect. The steers with the allele increasing carcass weight had heavier slaughter weight of about 12 kg. Conclusion: Genetic MYI is a potential tool for calf selection, which will reduce the slaughter age while simultaneously increasing carcass weight, back-fat thickness, and marbling score.

Functional Significance of Cytochrome P450 1A2 Allelic Variants, P450 1A2*8, *15, and *16 (R456H, P42R, and R377Q)

  • Lim, Young-Ran;Kim, In-Hyeok;Han, Songhee;Park, Hyoung-Goo;Ko, Mi-Jung;Chun, Young-Jin;Yun, Chul-Ho;Kim, Donghak
    • Biomolecules & Therapeutics
    • /
    • 제23권2호
    • /
    • pp.189-194
    • /
    • 2015
  • P450 1A2 is responsible for the metabolism of clinically important drugs and the metabolic activation of environmental chemicals. Genetic variations of P450 1A2 can influence its ability to perform these functions, and thus, this study aimed to characterize the functional significance of three P450 1A2 allelic variants containing nonsynonymous single nucleotide polymorphisms (P450 $1A2^*8$, R456H; $^*15$, P42R; $^*16$, R377Q). Variants containing these SNPs were constructed and the recombinant enzymes were expressed and purified in Escherichia coli. Only the P42R variant displayed the typical CO-binding spectrum indicating a P450 holoenzyme with an expression level of ~ 170 nmol per liter culture, but no P450 spectra were observed for the two other variants. Western blot analysis revealed that the level of expression for the P42R variant was lower than that of the wild type, however the expression of variants R456H and R377Q was not detected. Enzyme kinetic analyses indicated that the P42R mutation in P450 1A2 resulted in significant changes in catalytic activities. The P42R variant displayed an increased catalytic turnover numbers ($k_{cat}$) in both of methoxyresorufin O-demethylation and phenacetin O-deethylation. In the case of phenacetin O-deethylation analysis, the overall catalytic efficiency ($k_{cat}/K_m$) increased up to 2.5 fold with a slight increase of its $K_m$ value. This study indicated that the substitution P42R in the N-terminal proline-rich region of P450 contributed to the improvement of catalytic activity albeit the reduction of P450 structural stability or the decrease of substrate affinity. Characterization of these polymorphisms should be carefully examined in terms of the metabolism of many clinical drugs and environmental chemicals.

OCX-32 유전자 내 c.494A>C 및 c.267T>G SNP이 한국 재래닭 산란형질에 미치는 효과 분석 (Effects of c.494A>C and c.267T>G SNPs in OCX-32 Gene of Korean Native Chicken on Egg Production Traits)

  • 이지연;최소영;김종대;홍영호;정동기;이성진
    • 한국가금학회지
    • /
    • 제41권3호
    • /
    • pp.191-196
    • /
    • 2014
  • 가금 사육 프로그램에서 경제적으로 중요한 형질에 잠재적인 후보 유전자의 식별 및 활용은 점점 더 중요해지고 있다. Ovocalyxin-32(OCX-32) 유전자는 닭의 9번 염색체에 위치하며, 난각을 형성하는데 중요한 역할을 한다. 본 연구의 목적은 한국 재래닭의 OCX-32 유전자 내 SNP의 유전자형 결정과 산란 형질과의 연관성을 분석하기 위해 수행하였다. PCR-RFLP 방법을 통해 한국 오골계 46수, 백색 46수, 회색 43수, 흑색 46수를 포함한 총 181수의 한국 재래닭 암컷 4종의 SNP을 분석하였다. 산란 형질은 시산일령, 시산난중, 산란율, 난중의 4가지 항목을 포함하여 측정하였다. OCX-32 유전자 내 c.494A>C SNP은 오골계의 산란율과 유의적인 차이를 나타냈으며(p<0.001), 백색 재래닭에서는 난중과 유의적인 상관관계가 있었다(p<0.05). c.267T>G SNP은 오골계의 난중과 유의적인 연관성이 나타났다(p<0.05). 하지만 회색과 흑색 재래닭에서는 유의적인 상관관계가 나타나지 않았다. 본 연구 결과, 한국 재래닭의 사육 프로그램에서 산란형질을 선발하는 마커로 사용되기까지 추후 더 많은 개체군을 통한 연구가 요구되나, OCX-32 유전자 내 c.494A>C와 c.267T>G의 단일염기변이가 한국 재래닭 중 오골계와 백색 재래닭에서 산란 특성에 따른 DNA 선발 마커로서 활용할 수 있을 것으로 사료된다.

번식한우 사양관리(비육전후)에 따른 지방산결합단백질 4, 5(FABP4, 5) 유전자와 육질의 연관성 분석 (Association of Microsatellite Marker in FABP4,5 Gene with Marbling Score and Feeding and Management in Breed Hanwoo)

  • 김봉순;장길원;이승환;정학재;양보석;박진기;김민수;임선화;박채원;민관식;양병철
    • Reproductive and Developmental Biology
    • /
    • 제36권3호
    • /
    • pp.183-188
    • /
    • 2012
  • The bovine fatty acid binding protein 4 and 5 (FABP4 and 5) is a major positional and physiological candidate gene for the bovine marbling and carcass weight. The aim of this study was to evaluate the association between economic traits of Korean cattle (Hanwoo) and genetic variation in fatty acid binding protein 4 and 5 (FABP4 and 5) genes within carcass/meat quality traits and the before/after of fatting in breed Hanwoo. Here, we characterized the nucleotide polymorphism of FABP4 and 5 in 86 cattle. We were detected the variability of three types (GG, AG, and AA) by PCR, and economic traits were analyzed by the mixed regression model implemented in the ASReml program. As the result of statistical and supersonic analysis, FABP4 gene was highly showed significant effect (p<0.006) on marbling score (MS), in contrast FABP5 gene was lowed (p<0.084) on MS before fatting. But, FABP4 gene was highly showed significant effect (p<0.0054) on MS, in contrast FABP5 gene lowest (p<0.0899) on MS in the after of fatting. Compare to supersonic result before fatting in FABP4 gene, it was detected type GG: (p<7.18), AG: (p<8.50), and AA: (p<10.50) (n=50), showed type GG: (p<4.88), AG: (p<2.33), and AA: (p<0.00) after weed out (n=20). Futhermore, it was detected type GG: (p<9.30), AG: (p<7.95), and AA: (p<7.40) (n=50) before fatting in the FABP5 gene. It was shown type GG: (p<2.67), AG: (p<3.50), and AA: (p<5.00) after weed out (n=50). Our results indicate that FABP4 and 5 gene transcription is regulated by the environment of feeding and management, and suggest that feeding and management could be potential key in determining FABP4 and 5 genes transcription for carcass/meat quality traits in breed Hanwoo.

비만 관련 SNP genotype-phenotype 정보기반의 맞춤 식단옴 추천 (Personalized Dietary SikdanOme Recommendation based on Obesity Related SNP Genotype and Phenotype)

  • 신가희;이상민;강병철;장대자;권대영;김민정;김리랑;김진희;양혜정
    • 한국콘텐츠학회논문지
    • /
    • 제16권10호
    • /
    • pp.435-442
    • /
    • 2016
  • 전 세계적으로 비만인구의 증가로 인해 경제적 부담이 확대되고 있으며, 그 원인으로 육체적 활동의 감소 및 식이관리의 실패가 손꼽히고 있다. 영양성분 및 칼로리를 기반으로 한 맞춤 식단정보 제공 시스템과는 차별적으로 본 연구는 개인 맞춤형 기능성 식품을 추천하기 위해 비만 관련 SNP (single nucleotide polymorphism) 정보를 활용하였다. 본 연구를 위해 GWAS (Genome-wide association study) 분석을 수행하여 한국인 특이적인 비만 관련 SNP을 발굴하고, 이를 활용하여 유전적 정보를 입력하여 SNP genoype-phenoype 정보에 따른 맞춤 식단옴을 추천하였다. 또한 USDA (The United States Department of Agriculture) 식품 정보를 활용할 수 있도록 식품 통합 Database를 구축하여 식단 추천에 적용하였다. 그 결과, 표현형 정보 BMI (Body Mass Index)는 정상 수치를 가지고 있으나, 비만 관련 SNP 정보를 가지고 있는 샘플은 유전적 비만 위험도를 나타내어 식이관리가 필요하다는 정보를 확인하였으며, 관련 식품 정보를 제공하였다. 따라서 표현형에 따른 비만에 관한 정보와 유전형 정보가 일치하는 것은 아니며, 이는 표현형적 정보만을 이용한 비만 관리 식이 추천에는 한계가 있음을 의미하며 이러한 결과는 비만외 다른 성인병들에도 적용이 필요하며 이를 위해서는 표현형-유전적 통합정보를 기반 한 맞춤식이 추천이 필요함을 나타내었다.

미토콘드리아 ribosomal RNA 유전자 염기서열분석에 의한 한국산 연어아과 어류의 유전적 계통도 (Phylogeny of the subfamily Salmoninae distributed in Korea based upon nucleotide sequences of mitochondrial ribosomal RNA genes)

  • 이희정;박중연;이정호;민광식;전임기;유미애;이원호
    • 한국수산과학회지
    • /
    • 제33권2호
    • /
    • pp.103-109
    • /
    • 2000
  • 열목어를 비롯한 산천어, 시마연어, 연어, 무지개송어 등 우리나라 연어아과 어류의 집단구조분석을 위한 기초자료를 얻기 위하여, 미토콘드리아 ribosomal RMA 유전자 영역의 염기서열변이를 비교${\cdot}$분석하였다. 미토콘드리아 DNA의 125 rRNA(945 bases, 열목어 의 경우 946 bases), Valine transfer RNA (72 bases), 및 16S rRNA(1513 bases) 등 3개의 유전자 영역에 걸쳐, 최대 2531 bases의 염기서열을 PCR/direct sequencing하여 얻었는데, 모든 염기변이중 전이가 월등히 우세하게 나타났으며, 종내${\cdot}$종간변이율은 모두 $0.5{\%}$이하로 낮게 나타나, 다른 영역에 비해 rRNA 유전자 영역에서의 염기서열이 매우 보존적임을 보여주었다. 또한, 미토콘드리아 rRNA 유전자 염기서열은 연어류의 속 (genus)단계 이상에서 집단분류표지인자로 유용하게 쓰일 수 있으리라 사료되어진다. 미토콘드리아 rRNA 염기서열자료를 기초로 구성된 phylogenetic tree를 통해 이들 종간의 진화적인 유연관계를 살펴본 결과, 시마연어가 무지개송어보다는 연어와 더 근연인 것으로 나타났으며, 열목어는 가장 유연이 먼 종임을 확인할 수 있었다.

  • PDF

The effectiveness of genomic selection for milk production traits of Holstein dairy cattle

  • Lee, Yun-Mi;Dang, Chang-Gwon;Alam, Mohammad Z.;Kim, You-Sam;Cho, Kwang-Hyeon;Park, Kyung-Do;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제33권3호
    • /
    • pp.382-389
    • /
    • 2020
  • Objective: This study was conducted to test the efficiency of genomic selection for milk production traits in a Korean Holstein cattle population. Methods: A total of 506,481 milk production records from 293,855 animals (2,090 heads with single nucleotide polymorphism information) were used to estimate breeding value by single step best linear unbiased prediction. Results: The heritability estimates for milk, fat, and protein yields in the first parity were 0.28, 0.26, and 0.23, respectively. As the parity increased, the heritability decreased for all milk production traits. The estimated generation intervals of sire for the production of bulls (LSB) and that for the production of cows (LSC) were 7.9 and 8.1 years, respectively, and the estimated generation intervals of dams for the production of bulls (LDB) and cows (LDC) were 4.9 and 4.2 years, respectively. In the overall data set, the reliability of genomic estimated breeding value (GEBV) increased by 9% on average over that of estimated breeding value (EBV), and increased by 7% in cows with test records, about 4% in bulls with progeny records, and 13% in heifers without test records. The difference in the reliability between GEBV and EBV was especially significant for the data from young bulls, i.e. 17% on average for milk (39% vs 22%), fat (39% vs 22%), and protein (37% vs 22%) yields, respectively. When selected for the milk yield using GEBV, the genetic gain increased about 7.1% over the gain with the EBV in the cows with test records, and by 2.9% in bulls with progeny records, while the genetic gain increased by about 24.2% in heifers without test records and by 35% in young bulls without progeny records. Conclusion: More genetic gains can be expected through the use of GEBV than EBV, and genomic selection was more effective in the selection of young bulls and heifers without test records.

Genetic Variants at 6p21.1 and 7p15.3 Identified by GWASs of Multiple Cancers and Ovarian Cancer Risk: a Case-control Study in Han Chinese Women

  • Li, Da-Ke;Han, Jing;Liu, Ji-Bin;Jin, Guang-Fu;Qu, Jun-Wei;Zhu, Meng;Wang, Yan-Ru;Jiang, Jie;Ma, Hong-Xia
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제15권1호
    • /
    • pp.123-127
    • /
    • 2014
  • A recent study summarized several published genome-wide association studies (GWASs) of cancer and reported two pleiotropic loci at 6p21.1 and 7p15.3 contributing to multiple cancers including lung cancer, noncardia gastric cancer (NCGC), and esophageal squamous-cell carcinoma (ESCC) in Han Chinese. However, it is not known whether such genetic variants have similar effects on the risk of gynecologic cancers, such as ovarian cancer. Hence, we explored associations between genetic variants in 6p21.1 and 7p15.3 and ovarian cancer risk in Han Chinese women. We performed an independent case-control study by genotyping the two loci (rs2494938 A > G at 6p21.1 and rs2285947 A > G at 7p15.3) in a total of 377 ovarian cancer cases and 1,034 cancer-free controls using TaqMan allelic discrimination assay. We found that rs2285947 at 7p15.3 was significantly associated with risk of ovarian cancer with per allele odds ratio (OR) of 1.33 [95% confidence interval (CI): 1.08-1.64, P=0.008]. However, no significant association was observed between rs2494938 and ovarian cancer risk. Our results showed that rs2285947 at 7p15.3 may also contribute to the development of ovarian cancer in Han Chinese women, further suggesting pleiotropy of 7p15.3 in multiple cancers.

김포 장기동 유적 출토 인골의 유전자 분석 연구 (The Genetic Analysis Study of Ancient Human Bones Excavated at Janggi-dong site, Gimpo)

  • 서민석;조은민;김윤지;김수훈;강소영
    • 보존과학회지
    • /
    • 제30권4호
    • /
    • pp.409-416
    • /
    • 2014
  • 유적지에서 발굴되는 조선시대 인골은 보존 상태가 대부분 양호하여 형질인류학, 유전학, 그리고 화학적 연구를 수행할 수 있다. 본 연구에서는 김포 장기동 유적지에서 발굴된 조선시대 인골 6개체에 대한 DNA 분석을 통하여 미토콘드리아 DNA 변이형을 결정하였으며, 성별 분석결과를 토대로 남성 피장자의 Y 하플로그룹을 동정하였다. 유전자 분석에 앞서 보존상태가 양호한 것으로 판단되는 인골 6구를 대상으로 조직학 지수를 판별하였다. 미토콘드리아 DNA 변이형은 아시아인에서 높은 빈도로 나타나는 G, R11, M7, A5 등의 하플로그룹이 확인되었다. 인골의 성별을 확인하기 위하여 아밀로제닌 유전자 분석을 수행한 결과, 6구의 인골에서 여성 4구와 남성 2구의 성별을 확인할 수 있었다. 남성으로 판명된 인골에 Y 염색체 단일염기다형성 분석을 적용해본 결과, 하플로그룹 O로 확인되었다. 향후 출토 인골의 광범위한 분석을 위하여 인골을 선별한 경우에는 본 연구에서 제시한 조직학 지수를 적용하고, 미토콘드리아 DNA와 핵 DNA의 다양한 분석을 병행하여 출토 인골간의 유연관계를 규명하는 것이 필요하다.

Association of Poly (ADP-Ribose) Polymerase 1 Variants with Oral Squamous Cell Carcinoma Susceptibility in a South Indian Population

  • Anil, Sukumaran;Gopikrishnan, PB;Basheer, Ashik Bin;Vidyullatha, BG;Alogaibi, Yahya A;Chalisserry, Elna P;Javed, Fawad;Dalati, MHN;Vellappally, Sajith;Hashem, Mohamed Ibrahim;Divakar, Darshan Devang
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제17권8호
    • /
    • pp.4107-4111
    • /
    • 2016
  • Background: Oral cancers account for approximately 2% of all cancers diagnosed each year; however, the vast majority (80%) of the affected individuals are smokers whose risk of developing a lesion is five to nine times greater than that of non-smokers. Tobacco smoke contains numerous carcinogens that cause DNA damage, including oxidative lesions that are removed effectively by the base-excision repair (BER) pathway, in which poly (ADP-ribose) polymerase 1 (PARP-1), plays key roles. Genetic variations in the genes encoding DNA repair enzymes may alter their functions. Several studies reported mixed effects on the association between PARP-1 variants and the risk of cancer development. Till now no reported studies have investigated the association between PARP-1 variants and oral squamous cell carcinoma (OSCC) risk in an Indian population. Materials and Methods: In the present case control study 100 OSCC patients and 100 matched controls were genotyped using PARP1 single nucleotide peptides (SNP's) rs1136410 and rs3219090 using TaqMan assays. Results: The results indicated significantly higher risk with PARP1 rs1136410 minor allele "C" (OR=1.909; p=0.02942; CI, 1.060-3.439). SNP rs1136410 also showed significantly increased risk in patients with smoking habit at C/C genotype and at minor allele C. Conclusions: The PAPR-1 Ala762Val polymorphism may play a role in progression of OSCC. Larger studies with a greater number of samples are needed to verify these findings.