Molecular cloning, functional characterization, tissue expression and polymorphism analysis of buffalo PRDX6 gene

PRDX6 is a bifunctional protein involved in antioxidant regulation and phospholipid metabolism. Previous studies have shown that PRDX6 is involved in some biological pathways and networks related to lactation. The aim of this study was to explore the characteristics, function, tissue expression and variation of buffalo PRDX6 gene. We cloned and characterized the complete coding sequence (CDS) of buffalo PRDX6. The CDS of PRDX6 for swamp and river buffalo is the same, which consists of 675 nucleotides and encodes a protein of 224 amino acids. Buffalo PRDX6 contains one PRX_1cys functional domain (AA 7–222), which is probably related to the regulation of oxidative stress. Multi-tissue differential expression analysis showed that buffalo PRDX6 was highly expressed in the muscle, brain, lung and small intestine during non-lactation and lactation, and there were significant differences in expression in all the tissues except the small intestine between the two periods. It is worth noting that the mRNA abundance of buffalo PRDX6 in non-lactating mammary gland is higher than that in lactating mammary gland. Among the two single nucleotide polymorphisms (SNPs) identified in the CDS in this study, c.261C>T is shared by the two types of buffalo with different allelic frequencies, and c.426T>G is found only in river buffalo. The c.426T>G is non-synonymous, resulting in the amino acid substitution p.Asn142Lys. Only one nucleotide differential site is identified in PRDX6 gene between buffalo and other species of Bovidae. Phylogenetic analysis indicated that buffalo PRDX6 has a closer genetic relationship with that of the species in Bovidae. These results indicate that PRDX6 probably plays a crucial role in the mammary gland of buffalo. This study provides the foundation for further functional studies of PRDX6 in buffalo.

Download Full-text

Molecular characterization, tissue expression and polymorphisms of buffalo <i>PPARGC1A</i> gene

Archives Animal Breeding ◽

10.5194/aab-63-249-2020 ◽

2020 ◽

Vol 63 (2) ◽

pp. 249-259

Author(s):

Lihua Qiu ◽

Xinyang Fan ◽

Yongyun Zhang ◽

Xiaohong Teng ◽

Yongwang Miao

Keyword(s):

Mammary Gland ◽

Amino Acid ◽

Milk Fat ◽

Functional Role ◽

Transmembrane Domain ◽

Tissue Expression ◽

River Buffalo ◽

Nucleotide Polymorphisms ◽

Amino Acid Residues

Abstract. PPARGC1A exerts important functions in activating many nuclear receptors and transcription factors that are related to energy balance. Previous studies have shown that PPARGC1A gene is associated with lactation traits of dairy cattle. However, the functional role of the buffalo PPARGC1A gene is still unknown. In this work, the complete coding sequence (CDS) of buffalo PPARGC1A was isolated and characterized for swamp and river buffalo. The CDS length of PPARGC1A for both types of buffalo was the same, which was composed of 2394 nucleotides and encoded a peptide composed of 797 amino acid residues. This protein belonged to a hydrophilic protein and contained one RRM_PPARGC1A domain (AA 674–764) without a signal peptide or a transmembrane domain. The differential expressions of this gene in 10 buffalo tissues in lactation and non-lactation displayed that the PPARGC1A was highly expressed in the muscle, heart, liver, brain and kidney of both non-lactating and lactating periods, but its expression was significantly different in the muscle, heart, liver, small intestine, mammary gland, rumen, spleen and lung between the two periods. Eight single nucleotide polymorphisms (SNPs) were found in buffalo, in which the c.778C>T, c.1257G>A and c.1311G>A were shared by two types of buffalo with similar allele frequencies, while the c.419C>T, c.759A>G, c.920C>A, c.926G>A and c.1509A>T were only observed in river buffalo. The SNP419, SNP920 and SNP926 were non-synonymous, which led to the amino acid changes of p.Ser140Phe, p.Pro307His and p.Arg309Lys. Seven nucleotide differential sites were identified in the PPARGC1A gene between buffalo and other Bovidae species. Phylogenetic analysis indicated that buffaloes were independently clustered into one branch, but they were closely related to the species of the Bos genus. The results indicate that buffalo PPARGC1A is an inducible transcriptional coactivator involved in regulating carbohydrate and fat metabolism. It can exert a functional role in a variety of buffalo tissues and may participate in milk fat synthesis and development in the mammary gland.

Download Full-text

Construction and Evaluation of Directionally Cloned cDNA Libraries from Lactating and Non-lactating Mammary Gland of River Buffalo (Bubalus bubalis): A Resource for Gene Identification in Bubaline Genome

Journal of Applied Animal Research ◽

10.1080/09712119.2008.9706902 ◽

2008 ◽

Vol 33 (1) ◽

pp. 81-84

Author(s):

M. Mukesh ◽

R. S. Kataria ◽

V. Kumar ◽

D. Pandey ◽

M. Sodhi ◽

...

Keyword(s):

Mammary Gland ◽

Bubalus Bubalis ◽

Gene Identification ◽

Cdna Libraries ◽

River Buffalo ◽

Lactating Mammary Gland ◽

Cloned Cdna

Download Full-text

A network-based approach to eQTL interpretation and SNP functional characterization

10.1101/086587 ◽

2016 ◽

Cited By ~ 4

Author(s):

M. Fagny ◽

J.N. Paulson ◽

M.L. Kuijjer ◽

A.R. Sonawane ◽

C.-Y. Chen ◽

...

Keyword(s):

Local Community ◽

Association Studies ◽

Functional Characterization ◽

Tissue Expression ◽

Global Network ◽

Bipartite Network ◽

Eqtl Analysis ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Regulatory Regions

SummaryExpression quantitative trait locus (eQTL) analysis associates genotype with gene expression, but most eQTL studies only include cis-acting variants and generally examine a single tissue. We used data from 13 tissues obtained by the Genotype-Tissue Expression (GTEx) project v6.0 and, in each tissue, identified both cis- and trans-eQTLs. For each tissue, we represented significant associations between single nucleotide polymorphisms (SNPs) and genes as edges in a bipartite network. These networks are organized into dense, highly modular communities often representing coherent biological processes. Global network hubs are enriched in distal gene regulatory regions such as enhancers, but are devoid of disease-associated SNPs from genome wide association studies. In contrast, local, community-specific network hubs (core SNPs) are preferentially located in regulatory regions such as promoters and enhancers and highly enriched for trait and disease associations. These results provide help explain how many weak-effect SNPs might together influence cellular function and phenotype.

Download Full-text

EFFECT OF LOCALLY IMPLANTED OESTROGEN ON THE RESPONSE OF THE RAT'S LACTATING MAMMARY GLAND TO OXYTOCIN

Acta Endocrinologica ◽

10.1530/acta.0.0730700 ◽

1973 ◽

Vol 73 (4) ◽

pp. 700-712 ◽

Cited By ~ 1

Author(s):

J. D. Bruce ◽

X. Cofre ◽

V. D. Ramirez

Keyword(s):

Mammary Gland ◽

Mammary Glands ◽

Myoepithelial Cells ◽

Recording System ◽

Saline Infusion ◽

High Dose ◽

Low Doses ◽

Milk Ejection ◽

Lactating Mammary Gland ◽

Small Rise

ABSTRACT On the day following delivery (day 1 of lactation) one abdominal mammary gland was implanted with oestrogen and the contralateral gland received an empty needle. At 2, 5 or 10 days of lactation the rats were anaesthetized with pentobarbital and the nipples of both abdominal glands were cannulated and their pressures recorded by means of transducers coupled to an amplifier and recording system. The normal mammary glands of 5-day lactating rats responded to very low doses of oxytocin (Syntocinon®, Sandoz) (5× 10−8 mU) with a rhythmic elevation in pressure. However, saline infusion also evoked a small rise in intra-mammary pressure. Earlier (2 days) and later (10 days) in lactation the responses were smaller. Oestrogen decreases significantly the milk ejection response to oxytocin, and the effect was maximal at day 10 of lactation. Histological observations confirmed the diminished reaction of the gland to oxytocin, since the milk was retained in the alveoli of rats bearing a mammary-oestrogen implant. A paradoxical rise in pressure was detected in normal as well as in oestrogen-implanted glands when the lowest dose of oxytocin was injected in lactating rats which had previously received a high dose of oxytocin (50 mU or 500 mU). These results reinforce the hypothesis that oestrogen alters the milk ejection response to oxytocin and that the mechanism is probably related to changes in the contractility of the myoepithelial cells.

Download Full-text

ÜBER DIE WIRKUNG PHARMAKOLOGISCHER OXYTOCINDOSEN AUF DIE MILCHDRÜSE

Acta Endocrinologica ◽

10.1530/acta.0.xxxiv0543 ◽

1960 ◽

Vol XXXIV (IV) ◽

pp. 543-557 ◽

Cited By ~ 12

Author(s):

B. Berde ◽

A. Cerletti

Keyword(s):

Mammary Gland ◽

Intravenous Administration ◽

Intravenous Infusion ◽

Intranasal Administration ◽

Intramuscular Injection ◽

Different Types ◽

Lactating Mammary Gland ◽

Synthetic Oxytocin

ABSTRACT A study was made of the influence of pharmacological amounts of synthetic oxytocin (»Syntocinon«) on the lactating mammary gland of the rabbit. The drug was given by intravenous infusion, by intramuscular injection and by intranasal administration. Two different types of reaction were noted: a tonic reaction, i. e. a lasting increase in pressure in the mammary gland without significant fluctuations, or a rhythmic reaction, i. e. a series of increases in pressure at more or less regular intervals. In order to elicit reactions approximately identical in intensity and character with those produced by intravenous infusion, it was necessary to give approximately 1.5 to 8.0 times as much by intramuscular injection and approximately 10 to 100 times as much by intranasal administration. Intravenous administration of adrenaline transiently suppressed a long-lasting reaction to oxytocin.

Download Full-text

Association between EFHD2 gene polymorphisms and schizophrenia among the Han population in northern China

Journal of International Medical Research ◽

10.1177/0300060520932801 ◽

2020 ◽

Vol 48 (6) ◽

pp. 030006052093280

Author(s):

Meng Gao ◽

Kuo Zeng ◽

Ya Li ◽

Yong-ping Liu ◽

Xi Xia ◽

...

Keyword(s):

Allele Frequency ◽

Neurodevelopmental Disorder ◽

Haplotype Frequency ◽

Northern China ◽

Polymorphism Analysis ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Gene Encoding ◽

Frequency Distributions ◽

And Control

Objective Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. The gene encoding EF-hand domain-containing protein D2 ( EFHD2) may be a genetic risk locus for schizophrenia. Methods We genotyped four EFHD2 single-nucleotide polymorphisms (281 schizophrenia cases [SCZ], 321 controls) from northern Chinese Han individuals using Sanger sequencing and polymerase chain reaction-restriction fragment length polymorphism analysis. Differences existed in genotype, allele, and haplotype frequency distributions between SCZ and control groups. Results The rs2473357 genotype and allele frequency distributions differed between SCZ and controls; however, this difference disappeared after Bonferroni correction. Differences in rs2473357 genotype and allele frequency distributions between SCZ and controls were more pronounced in men than in women. The G allele increased schizophrenia risk (odds ratio = 1.807, 95% confidence interval = 1.164–2.803). Among six haplotypes (G–, A–, G-insC, A-C, G-C, and G-T), the G– haplotype frequency distribution differed between SCZ and controls in women; the A-C and G-C haplotype frequency distributions differed between SCZ and controls in men. Conclusions EFHD2 may be involved in schizophrenia. Sex differences in EFHD2 genotype and allele frequency distributions existed among schizophrenia patients. Further research is needed to determine the role of EFHD2 in schizophrenia.

Download Full-text

Sequence variants in the FcεRI alpha chain gene

Journal of Applied Physiology ◽

10.1152/japplphysiol.00993.2001 ◽

2002 ◽

Vol 93 (1) ◽

pp. 37-41 ◽

Cited By ~ 33

Author(s):

Toshiki Shikanai ◽

Eric S. Silverman ◽

Brian W. Morse ◽

Craig M. Lilly ◽

Hiroshi Inoue ◽

...

Keyword(s):

Promoter Region ◽

Population Substructure ◽

Chain Gene ◽

Polymorphism Analysis ◽

Sequence Variants ◽

Nucleotide Polymorphisms ◽

Coding Region ◽

Alpha Chain ◽

Asthmatic Patients ◽

Single Stranded Conformational Polymorphism

There is a relationship between IgE levels and expression of high-affinity IgE receptors (FcεRI). Because the alpha chain is the only portion of the receptor that binds directly to IgE, we reasoned that sequence variants in the FcεRI alpha gene may exist that alter these binding events. We screened all of the exons and the promoter region of the FcεRI alpha chain gene with genomic DNA from 389 asthmatic and 341 normal control subjects for mutations by using single-stranded conformational polymorphism analysis. No nonsynonomous single nucleotide polymorphisms (SNPs) were identified in the coding region. Three SNPs were found in the promoter region: an A/C transversion at −770 from the translation start site; a G/A transition at −664; and a T/C transition at −335. No differences in allele frequencies were detected between asthmatic subjects and controls. Homozygosity for the C variant at locus −335 was more common in Caucasian asthmatic patients with IgE levels in the lower quartile than in the upper quartile ( P = 0.032). An analysis of highly polymorphic SNPs indicated that this association is unlikely to be due to population substructure. We conclude that homozygosity for the C allele of FcεRI alpha chain variant is associated with lower IgE levels.

Download Full-text