Dear Editor： Increased homocysteine levels due to vitamin B6 or B12 deficiency or genetic defects in folate pathway genes are associated with an increased incidence of non-syndromic cleft lip with or without cleft p...Dear Editor： Increased homocysteine levels due to vitamin B6 or B12 deficiency or genetic defects in folate pathway genes are associated with an increased incidence of non-syndromic cleft lip with or without cleft palate （NSCLP）tlj. Thymidylate synthase （TS） is a folate-dependent enzyme that catalyzes methylation of 2＇-deoxyuridine-5＇-monophosphate （dUMP） to 2＇-deox- ythymidine-5＇-monophosphate （dTMP）, a rate-limiting step in DNA synthesis,展开更多
Three separate 5＇-flanking regions （1.1 kb, 1.9 kb and 2.2 kb） of crtO were cloned through walking upstream. Results of sequence analysis show that three 5＇-flanking regions of crtO might have some similar putati...Three separate 5＇-flanking regions （1.1 kb, 1.9 kb and 2.2 kb） of crtO were cloned through walking upstream. Results of sequence analysis show that three 5＇-flanking regions of crtO might have some similar putative cis-acting elements such as ABA （abscisic acid）-responsive element （ABRE）, C-repeat/dehydration responsive element （C-repeat/DRE）, light-responsive element （G-box, GAG-motif, I-box and ATC-motif）, wound-responsive element （WUN-motif）, auxin-responsive element （TGA-element）, MeJA-responsive element （TGACG-element） and MYB binding site （MBS）, except for typical TATA box or CCAAT box. These findings might mean diversiform regulatory patterns of crtO being in astaxanthin biosynthesis of Haematococcus pluvialis.展开更多
The aim of this study was to determine the effects of an IL-6 gene polymorphism, discovered in the 5＇ regulatory region, on porcine litter size. An association analysis was performed between the polymorphism and tota...The aim of this study was to determine the effects of an IL-6 gene polymorphism, discovered in the 5＇ regulatory region, on porcine litter size. An association analysis was performed between the polymorphism and total number born （TNB） and number born alive （NBA） in 421 sows. The polymorphism was at Hpy188I within the 5＇ regulatory region of IL- 6 gene. Three genotypes of AA, AG, and GG were detected in Landrace, and two genotypes, AA and AG, were detected in Yorkshire and Duroc pigs. The A allele was the superior allele in all three breeds, with allele frequencies ranging from 0. 901 to 0.993. The IL-6 genotype was highly significantly associated with TNB and NBA in the third and following parities （ P 〈 0.01 ）, and with total parities （ P 〈 0.05）. In general, the TNB and NBA showed a tendency of GG 〉 AG 〉 AA, indicating that the common allele was the least favorable for litter size. Thus, there is an enormous opportunity to increase litter size if this effect is confirmed in other studies.展开更多
Thymidylate synthase (TS;TYMS) is a pivotal enzyme in the DNA synthesis pathway. The 5’UTR of TYMS gene has a polymorphic 28 bp segment. Presence of two or three repeats of this unique 28 bp sequence is common. A dis...Thymidylate synthase (TS;TYMS) is a pivotal enzyme in the DNA synthesis pathway. The 5’UTR of TYMS gene has a polymorphic 28 bp segment. Presence of two or three repeats of this unique 28 bp sequence is common. A distinct population distribution pattern for this polymorphic trait among different racial groups had been reported. We analyzed TYMS genotype in the peripheral blood mononucleocytes (PBMC) of 74 individuals in the South Florida region of the United States of America. The number of 28 bp repeats in the 5’ UTR was determined by PCR followed by agarose gel electrophoresis. The distribution of the three different genotypes was found to be 35.1% for 2R/2R, 39.2% for 2R/3R and 24.3% for 3R/3R. One individual was detected with 3R/4R genotype. Functional analyses associated homozygous for three repeats (3R/3R) to higher TYMS expression and therefore poor prognosis to chemotherapy. The other possible genotypes viz 2R/2R or 2R/3R is proposed to have better prognosis. However, there are reports that challenge this observation.展开更多
OBJECTIVE: To screen the 5' regulatory region of the aldose reductase (AR) gene for genetic variabilities causing changes in protein expression and affecting the promoter function. METHODS: The screenings were car...OBJECTIVE: To screen the 5' regulatory region of the aldose reductase (AR) gene for genetic variabilities causing changes in protein expression and affecting the promoter function. METHODS: The screenings were carried out by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). All SSCP variants were submitted for DNA sequencing and inserted into the plasmid chloromycetin acetyl transferase (CAT) enhancer vector. The constructs were used to transfect Hela cells, and CAT assays were performed to assess promoter activity. Gel mobility shift and footprinting assays were also performed to determine the interaction between the DNA and nuclear proteins. RESULTS: Two polymorphisms, C (-106) T and C (-12) G, were identified in the regulatory region in 123 Chinese control subjects and 145 patients with type 2 diabetes mellitus. The frequencies of genotypes WT/WT, WT/C (-12) G and WT/C (-106) T were not significantly different between the subjects and patients. In the patients with and without retinopathy, frequencies of WT/C (-106) T were 31.5% and 17.5% (P 0.05) respectively. The total frequency of WT/C (-12) G and WT/C (-106) T in patients with retinopathy was 41.8%, significantly higher than that (20.0%) in patients without retinopathy (P展开更多
Myostatin is a negative regulator of skeletal muscle mass.The present studycloned the 5' regulatory region of porcine myostatin gene,screened its polymorphisms and analyzedtheir associations with early growth trai...Myostatin is a negative regulator of skeletal muscle mass.The present studycloned the 5' regulatory region of porcine myostatin gene,screened its polymorphisms and analyzedtheir associations with early growth traits in Yorkshire pigs.The results indicated that a fragmentlength polymorphism and a polymorphism concerning two nucleotide changes exist in the 5' regulatoryregion of porcine myostatin gene.At sites 435 and 447,allele A and allele B have the haplotypes ofA-G and G-A,respectively.The allelic frequency of B is 0.475 in Yorkshire pigs.No homozygous BBgenotype was detected in 9 Laiwu Black pigs.Allele B was found to have positive effect on bodyweight on day 21 (BW21) (P【0.01),body weight on day 28 (BW28) (P【0.05),body weight on day 70 (BW70)(P【0.05),average daily gain from birth to 21 d (ADG1) (P【0.01),average daily gain from birth to 28 d(ADG2) (P【0.05) and average daily gain from 21 d to 70 d (ADG3) (P【0.01),respectively.The additiveeffect of allele B on BW21,BW28,BW70,ADG1,ADG2 and ADG3 was 0.596±0.205 kg (P=0.0041),0.498±0.200kg (P=0.0136) 1.409±0.551 kg (P=0.0112),28.39±9.74 g P=0.0041),17.78±7.15 g (P=0.0136) and37.00±16.92 g (P=0.0304),respectively,whereas its effect on average daily gain from 28 d to 70 d(ADG4) was not significant (P】0.1),although BB individuals are superior in average daily gain to AAand AB.展开更多
基金funding from the Indian Council of Medical Research(ICMR),Government of India(Project Ref.No.56/15/2007-BMS)
文摘Dear Editor： Increased homocysteine levels due to vitamin B6 or B12 deficiency or genetic defects in folate pathway genes are associated with an increased incidence of non-syndromic cleft lip with or without cleft palate （NSCLP）tlj. Thymidylate synthase （TS） is a folate-dependent enzyme that catalyzes methylation of 2＇-deoxyuridine-5＇-monophosphate （dUMP） to 2＇-deox- ythymidine-5＇-monophosphate （dTMP）, a rate-limiting step in DNA synthesis,
基金supported by the National Natural Science Foundation (40706050 40706048)+4 种基金Natural Science Foundation of Shandong University of Technology (4040306017)Start-up Foundation for Ph.D of Shandong University of Technology (4041-4050174041-405016)National Key Technology R&D program(11200602)Foundation of State Commonweal Institute (2060402/2)
文摘Three separate 5＇-flanking regions （1.1 kb, 1.9 kb and 2.2 kb） of crtO were cloned through walking upstream. Results of sequence analysis show that three 5＇-flanking regions of crtO might have some similar putative cis-acting elements such as ABA （abscisic acid）-responsive element （ABRE）, C-repeat/dehydration responsive element （C-repeat/DRE）, light-responsive element （G-box, GAG-motif, I-box and ATC-motif）, wound-responsive element （WUN-motif）, auxin-responsive element （TGA-element）, MeJA-responsive element （TGACG-element） and MYB binding site （MBS）, except for typical TATA box or CCAAT box. These findings might mean diversiform regulatory patterns of crtO being in astaxanthin biosynthesis of Haematococcus pluvialis.
基金supported by National Natural Science Foundation of China ( No.31172176 )China Agriculture Research System ( No.CARS-36 )
文摘The aim of this study was to determine the effects of an IL-6 gene polymorphism, discovered in the 5＇ regulatory region, on porcine litter size. An association analysis was performed between the polymorphism and total number born （TNB） and number born alive （NBA） in 421 sows. The polymorphism was at Hpy188I within the 5＇ regulatory region of IL- 6 gene. Three genotypes of AA, AG, and GG were detected in Landrace, and two genotypes, AA and AG, were detected in Yorkshire and Duroc pigs. The A allele was the superior allele in all three breeds, with allele frequencies ranging from 0. 901 to 0.993. The IL-6 genotype was highly significantly associated with TNB and NBA in the third and following parities （ P 〈 0.01 ）, and with total parities （ P 〈 0.05）. In general, the TNB and NBA showed a tendency of GG 〉 AG 〉 AA, indicating that the common allele was the least favorable for litter size. Thus, there is an enormous opportunity to increase litter size if this effect is confirmed in other studies.
文摘Thymidylate synthase (TS;TYMS) is a pivotal enzyme in the DNA synthesis pathway. The 5’UTR of TYMS gene has a polymorphic 28 bp segment. Presence of two or three repeats of this unique 28 bp sequence is common. A distinct population distribution pattern for this polymorphic trait among different racial groups had been reported. We analyzed TYMS genotype in the peripheral blood mononucleocytes (PBMC) of 74 individuals in the South Florida region of the United States of America. The number of 28 bp repeats in the 5’ UTR was determined by PCR followed by agarose gel electrophoresis. The distribution of the three different genotypes was found to be 35.1% for 2R/2R, 39.2% for 2R/3R and 24.3% for 3R/3R. One individual was detected with 3R/4R genotype. Functional analyses associated homozygous for three repeats (3R/3R) to higher TYMS expression and therefore poor prognosis to chemotherapy. The other possible genotypes viz 2R/2R or 2R/3R is proposed to have better prognosis. However, there are reports that challenge this observation.
文摘OBJECTIVE: To screen the 5' regulatory region of the aldose reductase (AR) gene for genetic variabilities causing changes in protein expression and affecting the promoter function. METHODS: The screenings were carried out by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). All SSCP variants were submitted for DNA sequencing and inserted into the plasmid chloromycetin acetyl transferase (CAT) enhancer vector. The constructs were used to transfect Hela cells, and CAT assays were performed to assess promoter activity. Gel mobility shift and footprinting assays were also performed to determine the interaction between the DNA and nuclear proteins. RESULTS: Two polymorphisms, C (-106) T and C (-12) G, were identified in the regulatory region in 123 Chinese control subjects and 145 patients with type 2 diabetes mellitus. The frequencies of genotypes WT/WT, WT/C (-12) G and WT/C (-106) T were not significantly different between the subjects and patients. In the patients with and without retinopathy, frequencies of WT/C (-106) T were 31.5% and 17.5% (P 0.05) respectively. The total frequency of WT/C (-12) G and WT/C (-106) T in patients with retinopathy was 41.8%, significantly higher than that (20.0%) in patients without retinopathy (P
基金Supported by the National High Technology Research and Development Program of China (863) (Grant No. 2006AA10Z1E1)
文摘Myostatin is a negative regulator of skeletal muscle mass.The present studycloned the 5' regulatory region of porcine myostatin gene,screened its polymorphisms and analyzedtheir associations with early growth traits in Yorkshire pigs.The results indicated that a fragmentlength polymorphism and a polymorphism concerning two nucleotide changes exist in the 5' regulatoryregion of porcine myostatin gene.At sites 435 and 447,allele A and allele B have the haplotypes ofA-G and G-A,respectively.The allelic frequency of B is 0.475 in Yorkshire pigs.No homozygous BBgenotype was detected in 9 Laiwu Black pigs.Allele B was found to have positive effect on bodyweight on day 21 (BW21) (P【0.01),body weight on day 28 (BW28) (P【0.05),body weight on day 70 (BW70)(P【0.05),average daily gain from birth to 21 d (ADG1) (P【0.01),average daily gain from birth to 28 d(ADG2) (P【0.05) and average daily gain from 21 d to 70 d (ADG3) (P【0.01),respectively.The additiveeffect of allele B on BW21,BW28,BW70,ADG1,ADG2 and ADG3 was 0.596±0.205 kg (P=0.0041),0.498±0.200kg (P=0.0136) 1.409±0.551 kg (P=0.0112),28.39±9.74 g P=0.0041),17.78±7.15 g (P=0.0136) and37.00±16.92 g (P=0.0304),respectively,whereas its effect on average daily gain from 28 d to 70 d(ADG4) was not significant (P】0.1),although BB individuals are superior in average daily gain to AAand AB.
