scholarly journals Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions

2016 ◽  
Vol 80 (3) ◽  
pp. 187-196 ◽  
Author(s):  
A. Mesut Erzurumluoglu ◽  
Hashem A. Shihab ◽  
Santiago Rodriguez ◽  
Tom R. Gaunt ◽  
Ian N.M. Day
Keyword(s):  
Human Gene ◽  
Genetic Studies ◽  
Gene Functions

scholarly journals Genetic Studies of mei-P26 Reveal a Link Between the Processes That Control Germ Cell Proliferation in Both Sexes and Those That Control Meiotic Exchange in Drosophila

Genetics ◽  
2000 ◽  
Vol 155 (4) ◽  
pp. 1757-1772 ◽  
Author(s):  
Scott L Page ◽  
Kim S McKim ◽  
Benjamin Deneen ◽  
Tajia L Van Hook ◽  
R Scott Hawley
Keyword(s):  
Meiotic Recombination ◽  
Double Mutant ◽  
P Element ◽  
Genetic Studies ◽  
Germline Differentiation ◽  
Males And Females ◽  
Bag Of Marbles ◽  
Differentiation And Proliferation

Abstract We present the cloning and characterization of mei-P26, a novel P-element-induced exchange-defective female meiotic mutant in Drosophila melanogaster. Meiotic exchange in females homozygous for mei-P261 is reduced in a polar fashion, such that distal chromosomal regions are the most severely affected. Additional alleles generated by duplication of the P element reveal that mei-P26 is also necessary for germline differentiation in both females and males. To further assess the role of mei-P26 in germline differentiation, we tested double mutant combinations of mei-P26 and bag-of-marbles (bam), a gene necessary for the control of germline differentiation and proliferation in both sexes. A null mutation at the bam locus was found to act as a dominant enhancer of mei-P26 in both males and females. Interestingly, meiotic exchange in mei-P261; bamΔ86/+ females is also severely decreased in comparison to mei-P261 homozygotes, indicating that bam affects the meiotic phenotype as well. These data suggest that the pathways controlling germline differentiation and meiotic exchange are related and that factors involved in the mitotic divisions of the germline may regulate meiotic recombination.

Chromosomal localization and preliminary characterization of the human gene encoding insulin-like growth factor II

1985 ◽  
Vol 69 (2) ◽  
pp. 170-173 ◽  
Author(s):  
P. de Pagter-Holthuizen ◽  
J. W. M. Höppener ◽  
M. Jansen ◽  
A. H. M. Geurts van Kessel ◽  
G. J. B. van Ommen ◽  
...  
Keyword(s):  
Growth Factor ◽  
Chromosomal Localization ◽  
Human Gene ◽  
Insulin Like Growth Factor ◽  
Gene Encoding ◽  
Preliminary Characterization ◽  
Factor Ii

scholarly journals Development and characterization of fifteen polymorphic microsatellite loci in Bryconamericus aff. iheringii (Teleostei: Characidae) and cross-amplification in related Characidae species

2018 ◽  
Vol 16 (1) ◽  
Author(s):  
Caroline Apolinário-Silva ◽  
Dhiego G. Ferreira ◽  
Analiza F. Cavenagh ◽  
Nícollas G. O. Aprígio ◽  
Bruno A. Galindo ◽  
...  
Keyword(s):  
Information Content ◽  
Microsatellite Loci ◽  
Polymorphic Information Content ◽  
Neotropical Fish ◽  
Genetic Studies ◽  
Cross Amplification ◽  
Abstract Data ◽  
Polymorphic Microsatellite

ABSTRACT Data on 15 novel microsatellite loci from the Neotropical fish Bryconamericus aff. iheringii are presented here. Analyses of 32 individuals from four different streams revealed 192 different alleles, ranging from four to 32 alleles per locus (mean of 12.8 per locus). Observed and expected heterozygosities ranged from 0.094 to 0.813 and 0.205 to 0.952, respectively. These loci showed high polymorphic information content and will be a resource for genetic studies of B. aff. iheringii. Furthermore, several loci also amplified other small Neotropical Characidae (Piabarchus stramineus and Piabina argentea) and should be useful for these species.

scholarly journals Phosphorylation of key podocyte proteins and the association with proteinuric kidney disease

2020 ◽  
Vol 319 (2) ◽  
pp. F284-F291 ◽  
Author(s):  
Di Feng
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Human Kidney ◽  
Future Directions ◽  
Genetic Studies ◽  
New Therapies ◽  
Podocyte Proteins

Podocyte dysfunction contributes to proteinuric chronic kidney disease. A number of key proteins are essential for podocyte function, including nephrin, podocin, CD2-associated protein (CD2AP), synaptopodin, and α-actinin-4 (ACTN4). Although most of these proteins were first identified through genetic studies associated with human kidney disease, subsequent studies have identified phosphorylation of these proteins as an important posttranslational event that regulates their function. In this review, a brief overview of the function of these key podocyte proteins is provided. Second, the role of phosphorylation in regulating the function of these proteins is described. Third, the association between these phosphorylation pathways and kidney disease is reviewed. Finally, challenges and future directions in studying phosphorylation are discussed. Better characterization of these phosphorylation pathways and others yet to be discovered holds promise for translating this knowledge into new therapies for patients with proteinuric chronic kidney disease.

scholarly journals Red flour beetle (Tribolium castaneum): From population genetics to functional genomics

2018 ◽  
pp. 1043-1046 ◽  
Author(s):  
Harshit Kumar ◽  
Manjit Panigrahi ◽  
Supriya Chhotaray ◽  
V. Bhanuprakash ◽  
Rahul Shandilya ◽  
...  
Keyword(s):  
Functional Genomics ◽  
Tribolium Castaneum ◽  
Insertional Mutagenesis ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Immune Priming ◽  
Systemic Rnai ◽  
Basic Facts

Tribolium castaneum is a small and low maintenance beetle that has emerged as a most suitable insect model for studying developmental biology and functional genetic analysis. Diverse population genetic studies have been conducted using Tribolium as the principal model to establish basic facts and principles of inbreeding experiments and response to the selection and other quantitative genetics fundamentals. The advanced molecular genetic studies presently focused on the use of Tribolium as a typical invertebrate model for higher diploid eukaryotes. After a whole genome sequencing of Tribolium, many areas of functional genomics were unraveled, which enabled the use of it in many technical approaches of genomics. The present text reviews the use of Tribolium in techniques such as RNAi, transgenic studies, immune priming, immunohistochemistry, in situ hybridization, gene sequencing for characterization of microRNAs, and gene editing using engineered endonuclease. In contrast to Drosophila, the T. castaneum holds a robust systemic RNAi response, which makes it an excellent model for comparative functional genetic studies. Keywords: functional genomics, hox gene, insertional mutagenesis, RNAi, Tribolium.

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