We report here mutations affecting various aspects of liver development and function identified by multiple assays in a systematic mutagenesis screen in Medaka. The 22 identified recessive mutations assigned to 19 complementation groups fell into five phenotypic groups. Group 1, showing defective liver morphogenesis, comprises mutations in four genes, which may be involved in the regulation of growth or patterning of the gut endoderm. Group 2 comprises mutations in three genes that affect the laterality of the liver; in kendama mutants of this group, the laterality of the heart and liver is uncoupled and randomized. Group 3 includes mutations in three genes altering bile color, indicative of defects in hemoglobin-bilirubin metabolism and globin synthesis. Group 4 consists of mutations in three genes, characterized by a decrease in the accumulation of fluorescent metabolite of a phospholipase A(2) substrate, PED6, in the gall bladder. Lipid metabolism or the transport of lipid metabolites may be affected by these mutations. Mutations in Groups 3 and 4 may provide animal models for relevant human diseases. Group 5 mutations in six genes affect the formation of endoderm, endodermal rods and hepatic bud from which the liver develops. These Medaka mutations, identified by morphological and metabolite marker screens, should provide clues to understanding molecular mechanisms underlying formation of a functional liver.
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http://dx.doi.org/10.1016/j.mod.2004.04.004 | DOI Listing |
Evol Appl
December 2024
Department of Evolutionary Biology, Institute for Biological Research "Siniša Stanković"-National Institute of the Republic of Serbia University of Belgrade Belgrade Serbia.
Biocontrol techniques that impair reproductive capacity of insect pests provide opportunities to control the dynamics of their populations while minimizing collateral damage to non-target species and the environment. The Trojan Female Technique, or TFT, is a method of the trans-generational fertility-based population control through the release of females that carry mitochondrial DNA mutations that negatively affect male, but not female, reproductive output. TFT is based on the evolutionary hypothesis that, due to maternal inheritance of mitochondria, mutations which are beneficial or neutral in females but harmful in males can accumulate in the mitochondrial genome without selection acting against them.
View Article and Find Full Text PDFFront Genome Ed
December 2024
Agronomy Department, Plant Molecular and Cellular Biology Program, Genetics Institute, University of Florida, IFAS-Institute of Food and Agricultural Science, Gainesville, FL, United States.
Sugarcane ( spp.) is an important biofuel feedstock and a leading source of global table sugar. hybrid cultivars are highly polyploid (2n = 100-130), containing large numbers of functionally redundant hom(e)ologs in their genomes.
View Article and Find Full Text PDFJ Am Chem Soc
December 2024
Department of Chemistry, Massachusetts Institute of Technology, 170 Albany Street, Cambridge, Massachusetts 02139, United States.
The SARS-CoV-2 E protein conducts cations across the cell membrane to cause pathogenicity to infected cells. The high-resolution structures of the E transmembrane domain (ETM) in the closed state at neutral pH and in the open state at acidic pH have been determined. However, the ion conduction mechanism remains elusive.
View Article and Find Full Text PDFBackground: Caryophyllaceae contains 100 genera and 3000 species, many of which are valuable both ecologically and economically. However, as past research has shown, the fundamental phylogenetic relationships of Caryophyllaceae are still debatable, and molecular dating based on chloroplast genomes has not been thoroughly examined for the entire family.
Methods: In this study, the complete chloroplast genome sequences of Arenaria kansuensis Maxim.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
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