Antagonism of Hypervitaminosis A-Induced Anterior Neural Tube Closure Defects with a Methyl-Donor Deficiency in Murine Whole-Embryo Culture

Santos-Guzmán, Jesús; Arnhold, Thomas; Nau, Heinz; Wagner, Conrad; Fahr, Sharon H.; Mao, Gloria E.; Caudill, Marie A.; Wang, Jennie C.; Henning, Susanne M.; Swendseid, Marian E.; Collins, Michael D.

doi:10.1093/jn/133.11.3561

Cited by 9 publications

(8 citation statements)

References 54 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Interest in the factors that influence choline transport and metabolism has grown because of choline's association with neural tube defects (49,51), memory development (75), Alzheimer's disease (53), homocysteine production (50), and inherited disorders of neuromuscular transmission (40,78). The phosphorylation of intracellular choline by choline kinase and the subsequent production of CDP-choline, the main precursor of PC, by CTP:phosphocholine cytidylytransferase (Pcyt1) are the principal pathways for choline utilization and have been extensively studied and are reasonably well understood (23,63,69).…”

mentioning

confidence: 99%

Genomic organization, promoter activity, and expression of the human choline transporter-like protein 1

Yuan

Tie

Tarnopolsky

et al. 2006

Physiological Genomics

View full text Add to dashboard Cite

line transporter-like (CTL) proteins of the CTL1 family are novel transmembrane proteins implicated in choline transport for phospholipid synthesis. In this study, we characterized the 5Ј-flanking region of the human (h)CTL1 gene and examined some of the possible mechanisms of its regulation, including promoter activity, splicing, and expression. The transcription start site of the hCTL1 gene was mapped by 5Ј-rapid amplification of cDNA ends (RACE), and the presence of two splice variants, hCTL1a and hCTL1b, was investigated using isoform-specific PCR and 3Ј-RACE. The hCTL1 promoter region of ϳ900 bp was isolated from MCF-7 human breast cancer cells. The promoter was TATA-less and driven by a long stretch of GC-rich sequence in accordance with widespread expression of hCTL1 at both mRNA and protein levels. Deletion analyses demonstrated that a very strong promoter is contained within 500 bp of the transcription start site, and more upstream regions did not increase its activity. The core promoter that conferred the minimal transcription is within the Ϫ188/ϩ27-bp region, and its activity varied in human breast cancer and mouse skeletal muscle cells. Multiple motifs within the promoter regulatory region bound nuclear factors from both cultured cells and normal human skeletal muscle. The motifs within the three regions [S1 (Ϫ92/Ϫ61 bp), S2 (Ϫ174/Ϫ145 bp), and S3 (Ϫ289/Ϫ260 bp)] contained overlapping binding sites for hematopoietic transcription factors and ubiquitous transcription factors, in line with the expected gene function. Genomic analyses demonstrated a high conservation of hCTL1 and mouse CTL1 proximal promoters. Accordingly, mRNA profiles demonstrated that human splice variants were expressed ubiquitously, as demonstrated for the mouse transcripts; however, they differed from the profiles of rat CTL1 transcripts, which were more restricted to neurons and intestinal tissues. The shorter hCTL1b variant contained the cytosolic COOH-terminal motif L 651 KKR 654 for endoplasmic reticulum retrieval/retention. This retention signal was conserved in hCTL1b and rat and mouse CTL1b and is typical for transmembrane proteins of type 1 topology.choline transporter-like protein 1 promoters; gene expression THE MAJORITY OF CHOLINE is incorporated into phosphatidylcholine (PC) or proceeds through mitochondrial oxidation to betaine, thus entering the one-carbon methylation pool (74, 62), or is used in the production of the neurotransmitter acetylcholine (45). Interest in the factors that influence choline transport and metabolism has grown because of choline's association with neural tube defects (49, 51), memory development (75), Alzheimer's disease (53), homocysteine production (50), and inherited disorders of neuromuscular transmission (40, 78). The phosphorylation of intracellular choline by choline kinase and the subsequent production of CDP-choline, the main precursor of PC, by CTP:phosphocholine cytidylytransferase (Pcyt1) are the principal pathways for choline utilization and have been extensively studied and are ...

show abstract

mentioning

confidence: 99%

Genomic organization, promoter activity, and expression of the human choline transporter-like protein 1

Yuan

Tie

Tarnopolsky

et al. 2006

Physiological Genomics

View full text Add to dashboard Cite

show abstract

“…The homozygous animals in RBP 4 gene had a rather Retinolic acid (Vitamin A) derived from endogenous retinol is delivered to target cells by RBP [8]. It may influence embryonic mortality rate [16]. They showed that supplementing the diet of pregnant sows with vitamin A can increase litter size [1,8].…”

Section: Resultsmentioning

confidence: 99%

A Study on the Prolactin Receptor 3 (PRLR3) Gene and the Retinol-binding Protein 4 (RBP4) Gene as Candidate Genes for Growth and Litter Size Traits of Berkshire in Korea

Do¹,

Kim²,

Kang³

et al. 2010

Journal of Life Science

View full text Add to dashboard Cite

Two diallelic markers at candidate gene loci, the prolactin receptor 3 (PRLR3) gene and the retinol-binding protein 4 (RBP4) gene were evaluated for their association with growth and litter size traits in Berkshire. Genetic evaluation was conducted for 5,919 pigs with pedigree information, which included 3,480 growth performance records and 775 litter size records of 224 sows. From the same herd, genotyping was carried out on 144 and 156 animals for PRLR3 and RBP4, respectively. After assigning a genotype to subjects in which both parents had a homozygous genotype, numbers of genotyped animals increased to 474 and 338, for the PRLR3 gene and RBP4 gene, respectively. The genotype effects of two markers were estimated with breeding values of the genotyped animals. The additive effects of total number of piglets born and number of piglets born alive in the PRLR3 locus were -0.28 and -0.13, respectively. The dominance effect of the RBP4 locus on average daily gain was -10.58 g. However, the polymorphism of the RBP4 locus in total number of piglets born and number of piglets born alive has shown -0.34 and -0.33 of the additive genetic effects. In view of the results, MAS (marker-assisted selection) favoring B alleles of RBP4 and PRLR3 loci could potentially accelerate the rate of the genetic improvement in the litter size traits.

show abstract

“…The corticospinal fibers arise from motor neurons of the gray matter of the cerebral cortex and are guided by the axonal guidance molecules, which must be present in the environment to ''attract" or to ''repel" the axons, and the neuronal receptor molecules which must also be present to guide the axons to their final destination [29]. It has been shown that developmental morphogens such as Sonic hedgehog, bone morphogenetic proteins and Wnts are used by the growth cones to navigate properly.…”

Section: Developmental Explanation Of Mirror Movementmentioning

confidence: 99%

“…Environmental teratogenic factors may cause mutation/deletion in various genes. Depienne, Cincotta (1) studied the genetic causes of MM by comparing the corticospinal tract morphology of patients with the DCC mutation/deletion and RAD51/deletion with normal subjects and demonstrated that each primary motor cortex was abnormally connected to both sides of the spinal cord via separate crossed and fast conducting corticospinal projections [29]. Thus, the development of the decussation is under the control of a host of signaling molecules.…”

Section: Developmental Explanation Of Mirror Movementmentioning

confidence: 99%

Assessment of the corticospinal fiber integrity in mirror movement disorder

Solmaz¹,

Özyurt

Ata

et al. 2018

Journal of Clinical Neuroscience

View full text Add to dashboard Cite

Mirror movements are unintended movements occurring on one side of the body that mirror the contralateral voluntary ones. It has been proposed that mirror movements occur due to abnormal decussation of the corticospinal pathways. Using detailed multidisciplinary approach, we aimed to enlighten the detailed mechanism underlying the mirror movements in a case subject who is diagnosed with mirror movements of the hands and we compared the findings with the unaffected control subjects. To evaluate the characteristics of mirror movements, we used several techniques including whole exome sequencing, computed tomography, diffusion tensor imaging and transcranial magnetic stimulation. Computed tomography showed the absence of a spinous process of C5, fusion of the body of C5-C6 vertebrae, hypoplastic dens and platybasia of the posterior cranial fossa. A syrinx cavity was present between levels C3-C4 of the spinal cord. Diffusion tensor imaging of the corticospinal fibers showed disorganization and minimal decussations at the lower medulla oblongata. Transcranial magnetic stimulation showed that motor commands were distributed to the motor neuron pools on the left and right sides of the spinal cord via fast-conducting corticospinal tract fibers. Moreover, a heterozygous missense variation in the deleted in colorectal carcinoma gene has been observed. Developmental absence of the axonal guidance molecules or their receptors may result in abnormalities in the leading of the corticospinal fibers. Clinical evaluations and basic neuroscience techniques, in this case, provide information for this rare disease and contribute to our understanding of the normal physiology of bimanual coordination.

show abstract

Antagonism of Hypervitaminosis A-Induced Anterior Neural Tube Closure Defects with a Methyl-Donor Deficiency in Murine Whole-Embryo Culture

Cited by 9 publications

References 54 publications

Genomic organization, promoter activity, and expression of the human choline transporter-like protein 1

Genomic organization, promoter activity, and expression of the human choline transporter-like protein 1

A Study on the Prolactin Receptor 3 (PRLR3) Gene and the Retinol-binding Protein 4 (RBP4) Gene as Candidate Genes for Growth and Litter Size Traits of Berkshire in Korea

Assessment of the corticospinal fiber integrity in mirror movement disorder

Contact Info

Product

Resources

About