III. Congenital chloride diarrhea

1999 ◽  
Vol 276 (1) ◽  
pp. G7-G13 ◽  
Author(s):  
Juha Kere ◽  
Hannes Lohi ◽  
Pia Höglund
Keyword(s):  
Gene Family ◽  
Genetic Disease ◽  
Transmembrane Protein ◽  
Founder Effects ◽  
Sulfate Transport ◽  
Sulfate Transporter ◽  
Transporter Family ◽  
Congenital Chloride Diarrhea ◽  
Eukaryotic Species ◽  
The World

Congenital chloride diarrhea (CLD) is a recessively inherited disorder of intestinal electrolyte absorption that involves, specifically, Cl−/[Formula: see text]exchange. CLD is caused by mutations in a chromosome 7 gene, first known as DRA (for downregulated in adenoma). The disease occurs in all parts of the world but is more common in some populations with genetic founder effects. More than 20 mutations in the gene are known to date. The CLD (or DRA) gene encodes a transmembrane protein belonging to the sulfate transporter family with three known members in humans, all associated with a distinct genetic disease. Members of the gene family can transport other anions as well that may turn out to be physiologically more important than sulfate transport. The gene family is well conserved in many prokaryotic and eukaryotic species and is expected to be much larger than presently known.

scholarly journals Plant Sulfate Transporters in the Low Phytic Acid Network: Some Educated Guesses

Plants ◽  
2019 ◽  
Vol 8 (12) ◽  
pp. 616 ◽  
Author(s):  
Gian Attilio Sacchi ◽  
Fabio Francesco Nocito
Keyword(s):  
Phytic Acid ◽  
Current Knowledge ◽  
Cereal Grains ◽  
Sulfate Transport ◽  
Sulfate Transporter ◽  
Low Phytic Acid ◽  
Transport Regulation ◽  
Transporter Family ◽  
Phosphorus Accumulation ◽  
Group 3

A few new papers report that mutations in some genes belonging to the group 3 of plant sulfate transporter family result in low phytic acid phenotypes, drawing novel strategies and approaches for engineering the low-phytate trait in cereal grains. Here, we shortly review the current knowledge on phosphorus/sulfur interplay and sulfate transport regulation in plants, to critically discuss some hypotheses that could help in unveiling the physiological links between sulfate transport and phosphorus accumulation in seeds.

scholarly journals Sulfate Transport Is Not Impaired in Pendred Syndrome Thyrocytes

1999 ◽  
Vol 84 (7) ◽  
pp. 2574-2576 ◽  
Author(s):  
Z. Kraiem ◽  
R. Heinrich ◽  
O. Sadeh ◽  
E. Shiloni ◽  
E. Nassir ◽  
...  
Keyword(s):  
Sulfate Transport ◽  
Pendred Syndrome ◽  
Sulfate Transporter ◽  
Functional Studies ◽  
Thyroid Goiter ◽  
Sensory Neural ◽  
Neural Deafness ◽  
Novel Protein

Pendred syndrome is the most common form of syndromic deafness, characterized by dyshormonogenic goiter associated with sensory-neural deafness. The gene responsible for the disease (PDS) has been cloned, but its function is as yet unknown and the connection between thyroid goiter and sensory-neural deafness remains an enigma. PDS codes for a novel protein, pendrin, which is closely related to a number of sulfate transporters. Mechanisms by which abnormal sulfate transport could deleteriously affect iodide organification have been proposed. We tested sulfate transport in thyrocytes obtained from Pendred syndrome patients and found that it was not defective. This suggests that pendrin in fact may not be a sulfate transporter, and emphasizes the importance of functional studies on this novel protein.

Physiological Roles and Regulation of Mammalian Sulfate Transporters

2001 ◽  
Vol 81 (4) ◽  
pp. 1499-1533 ◽  
Author(s):  
Daniel Markovich
Keyword(s):  
Normal Function ◽  
The Body ◽  
Regulatory Mechanisms ◽  
Sulfur Source ◽  
Sulfate Transporter ◽  
Structural And Functional Properties ◽  
Congenital Chloride Diarrhea ◽  
Sat 1 ◽  
Inorganic Sulfate

All cells require inorganic sulfate for normal function. Sulfate is among the most important macronutrients in cells and is the fourth most abundant anion in human plasma (300 μM). Sulfate is the major sulfur source in many organisms, and because it is a hydrophilic anion that cannot passively cross the lipid bilayer of cell membranes, all cells require a mechanism for sulfate influx and efflux to ensure an optimal supply of sulfate in the body. The class of proteins involved in moving sulfate into or out of cells is called sulfate transporters. To date, numerous sulfate transporters have been identified in tissues and cells from many origins. These include the renal sulfate transporters NaSi-1 and sat-1, the ubiquitously expressed diastrophic dysplasia sulfate transporter DTDST, the intestinal sulfate transporter DRA that is linked to congenital chloride diarrhea, and the erythrocyte anion exchanger AE1. These transporters have only been isolated in the last 10–15 years, and their physiological roles and contributions to body sulfate homeostasis are just now beginning to be determined. This review focuses on the structural and functional properties of mammalian sulfate transporters and highlights some of regulatory mechanisms that control their expression in vivo, under normal physiological and pathophysiological states.

scholarly journals Genome-Wide Analysis of the Amino Acid Auxin Permease (AAAP) Gene Family and Identification of an AAAP Gene Associated with the Growth and Reproduction of the Brown Planthopper, Nilaparvata lugens (Stål)

Insects ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 746
Author(s):  
Lei Yue ◽  
Rui Pang ◽  
Hu Tian ◽  
Ziying Guan ◽  
Mingzhao Zhong ◽  
...  
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Gene Family ◽  
Brown Planthopper ◽  
Larval Growth ◽  
Family Members ◽  
Nilaparvata Lugens ◽  
Hatching Rate ◽  
Characteristic Analysis ◽  
Transporter Family

Amino acids play a vital role in several biological processes in organisms and are mainly acquired through diet by most insects. The amino acid auxin permease (AAAP) transporter family is an important amino acid transporter gene family in insects for the transportation of amino acids into and out of cells across the plasma membrane. Here, we identified 21 putative AAAP family members in the genome of the brown planthopper (BPH), Nilaparvata lugens, a devastating pest that feeds only on the phloem sap of rice plants. Molecular characteristic analysis indicated large variations in protein features and amino acid sequences among the predicted AAAP family members in BPH. Phylogenetic analysis clustered these AAAP transporters into three subgroups, with the members in the same group sharing a similar pattern of conserved motif distribution. Through ortholog gene recognition and spatiotemporal gene expression analysis, the AAAP gene NlAAAP07, which was predicted to regulate BPH larval growth and female fecundity, was identified. RNA interference (RNAi)-mediated suppression of NlAAAP07 significantly postponed the duration of 3rd instar nymphs developing into adults from 7.4 days to 9.0 days, and decreased the oviposition amount and egg hatching rate of females by 30.7% and 11.0%, respectively. Our results provide a foundation for further functional analysis of AAAP transporters in BPH.

scholarly journals Extensive Expansion of the Speedy gene Family in Homininae and Functional Differentiation in Humans

2018 ◽  
Author(s):  
Liang Wang ◽  
Hui Wang ◽  
Hongmei Wang ◽  
Yuhui Zhao ◽  
Xiaojun Liu ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Gene Family ◽  
Gene Networks ◽  
Functional Differentiation ◽  
Cell Cycles ◽  
Cycle Plays ◽  
Eukaryotic Species ◽  
Regulation Network ◽  
Cancer Types ◽  
And Function

AbstractBackgroundThe cell cycle plays important roles in physiology and disease. The Speedy/RINGO family of atypical cyclins regulates the cell cycle. However, the origin, evolution and function of the Speedy family are not completely understood. Understanding the origins and evolution of Speedy family would shed lights on the evolution of complexity of cell cycles in eukaryotes.ResultsHere, we performed a comprehensive identification of Speedy genes in 258 eukaryotic species and found that the Speedy subfamily E was extensively expanded in Homininae, characterized by emergence of a low-Spy1-identify domain. Furthermore, the Speedy gene family show functional differentiation in humans and have a distinct expression pattern, different regulation network and co-expressed gene networks associated with cell cycle and various signaling pathways. Expression levels of the Speedy gene family are prognostic biomarkers among different cancer types.ConclusionsOverall, we present a comprehensive view of the Speedy genes and highlight their potential function.

scholarly journals Evidence that the Plasmodium falciparum Protein Sortilin Potentially Acts as an Escorter for the Trafficking of the Rhoptry-Associated Membrane Antigen to the Rhoptries

mSphere ◽  
2018 ◽  
Vol 3 (1) ◽  
Author(s):  
Stéphanie Hallée ◽  
Justin A. Boddey ◽  
Alan F. Cowman ◽  
Dave Richard
Keyword(s):  
Blood Cells ◽  
Malaria Parasite ◽  
Transmembrane Protein ◽  
Transport Proteins ◽  
Commercial Vaccine ◽  
The World ◽  
Apical Complex ◽  
Insight Into ◽  
Falciparum Protein ◽  
Critical Structure

The malaria parasite is a massive burden in several parts of the world. Worryingly, the parasite has become resistant to several of the drugs commonly used to treat the disease, and at this time, there is no commercial vaccine. It is therefore critical to identify new targets for the development of antimalarials. To survive in the human body, the malaria parasite needs to invade red blood cells. For this, it uses a variety of effectors stored in organelles forming a structure called the apical complex. The mechanisms behind how the parasite generates the apical complex are poorly understood. In this study, we present evidence that a transmembrane protein called sortilin potentially acts as an escorter to transport proteins from the Golgi apparatus to the rhoptries, a component of the apical complex. Our study provides new insight into the biogenesis of a critical structure of the malaria parasite.

The relationship between blood groups and disease

Blood ◽  
2010 ◽  
Vol 115 (23) ◽  
pp. 4635-4643 ◽  
Author(s):  
David. J. Anstee
Keyword(s):  
Blood Group ◽  
Blood Groups ◽  
Founder Effects ◽  
Migration Patterns ◽  
Relative Contribution ◽  
The World ◽  
Early Humans ◽  
Genes Encoding ◽  
The Relationship ◽  
Mtdna Markers

Abstract The relative contribution of founder effects and natural selection to the observed distribution of human blood groups has been debated since blood group frequencies were shown to differ between populations almost a century ago. Advances in our understanding of the migration patterns of early humans from Africa to populate the rest of the world obtained through the use of Y chromosome and mtDNA markers do much to inform this debate. There are clear examples of protection against infectious diseases from inheritance of polymorphisms in genes encoding and regulating the expression of ABH and Lewis antigens in bodily secretions particularly in respect of Helicobacter pylori, norovirus, and cholera infections. However, available evidence suggests surviving malaria is the most significant selective force affecting the expression of blood groups. Red cells lacking or having altered forms of blood group-active molecules are commonly found in regions of the world in which malaria is endemic, notably the Fy(a−b−) phenotype and the S-s− phenotype in Africa and the Ge− and SAO phenotypes in South East Asia. Founder effects provide a more convincing explanation for the distribution of the D− phenotype and the occurrence of hemolytic disease of the fetus and newborn in Europe and Central Asia.

Genetically Defective Children: Emerging Legal Considerations

1977 ◽  
Vol 3 (3) ◽  
pp. 332-340
Author(s):  
Margery W. Shaw
Keyword(s):  
Genetic Disease ◽  
Genetic Defects ◽  
Court Cases ◽  
The World ◽  
Medical Advances

AbstractDespite modern medical advances, births of genetically defective children still occur. The author outlines the problem of genetic disease, and describes the medical and legal advances that now make possible a reduction in its incidence. Then she cites—and briefly comments upon— some court cases brought by parents of genetically defective children against their physicians for allegedly failing to predict or to diagnose genetic defects in those children in time for the parents to exercise any procreative options such as sterilization, contraception, or abortion. In addition, the author speculates on various questions that may arise in future litigation in this area—among them, the question of whether or not courts someday will endow genetically defective children with a cause of action against their parents for bringing them into the world.

Sign in / Sign up

Export Citation Format

Share Document