A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse

1997 ◽  
Vol 8 (6) ◽  
pp. 407-410 ◽  
Author(s):  
Masayuki Mori ◽  
Masahiko Nishimura
Keyword(s):  
Macular Mouse ◽  
Atpase Gene ◽  
P Type

Identification and phylogenetic classification of eleven putative P-type calcium transport ATPase genes in the yeasts Saccharomyces cerevisiae and Schizosaccharomyces pombe

1996 ◽  
Vol 16 (2) ◽  
pp. 75-85 ◽  
Author(s):  
P. Catty ◽  
A. Goffeau
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Subcellular Location ◽  
Homologous Proteins ◽  
Yeast Saccharomyces Cerevisiae ◽  
Phylogenetic Classification ◽  
New Class ◽  
Atpase Gene ◽  
Protein Sequence Homology ◽  
P Type

Calcium is an essential second messenger in yeast metabolism and physiology. So far, only four genes coding for calcium translocating ATPases had been discovered in yeast. The recent completion of the yeast Saccharomyces cerevisiae genome allowed us to identify six new putative Ca++-ATPases encoding genes. Protein sequence homology analysis and phylogenetic classification of all putative Ca++-ATPase gene products from the yeasts Saccharomyces cerevisiae and Schizosacchraomyces pombe reveal three clusters of homologous proteins. Two of them comprises seven proteins which might belong to a new class of P-type ATPases of unknown subcellular location and of unknown physiological function.

scholarly journals ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease

2018 ◽  
Author(s):  
Daniel F. Wallace ◽  
James S. Dooley
Keyword(s):  
Wilson Disease ◽  
Genomic Sequence ◽  
Genetic Disorder ◽  
Copper Metabolism ◽  
Genetic Studies ◽  
Population Prevalence ◽  
Atpase Gene ◽  
Prevalence Estimates ◽  
The Uk ◽  
P Type

AbstractWilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the copper transporting P-type ATPase gene ATP7B. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. However, some genetic studies have reported much higher prevalence rates. The aim of this study was to estimate the population prevalence of WD and the pathogenicity/penetrance of WD variants by determining the frequency of ATP7B variants in a genomic sequence database. A catalogue of WD-associated ATP7B variants was constructed and then frequency information for these was extracted from the gnomAD dataset. Pathogenicity of variants was assessed by (a) comparing gnomAD allele frequencies against the number of reports for variants in the WD literature and (b) using variant effect prediction algorithms. 231 WD-associated ATP7B variants were identified in the gnomAD dataset, giving an initial estimated population prevalence of around 1 in 2400. After exclusion of WD-associated ATP7B variants with predicted low penetrance, the revised estimate showed a prevalence of around 1 in 20,000, with higher rates in the Asian and Ashkenazi Jewish populations. Reanalysis of other recent genetic studies using our penetrance criteria also predicted lower population prevalences for WD in the UK and France than had been reported. Our results suggest that differences in variant penetrance can explain the discrepancy between reported epidemiological and genetic prevalences of WD. They also highlight the challenge in defining penetrance when assigning causality to some ATP7B variants.

scholarly journals Comparative analysis of the P-type ATPase gene family in seven Rosaceae species and an expression analysis in pear (Pyrus bretschneideri Rehd.)

Genomics ◽  
2020 ◽  
Vol 112 (3) ◽  
pp. 2550-2563 ◽  
Author(s):  
Yuxin Zhang ◽  
Qionghou Li ◽  
Linlin Xu ◽  
Xin Qiao ◽  
Chunxin Liu ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Gene Family ◽  
Expression Analysis ◽  
Rosaceae Species ◽  
Atpase Gene ◽  
P Type

II. Yeast sequencing reports. A putative P-type Cu2+-transporting ATPase gene on chromosome II ofSaccharomyces cerevisiae

Yeast ◽  
1994 ◽  
Vol 10 (9) ◽  
pp. 1217-1225 ◽  
Author(s):  
Massoud Ramezani Rad ◽  
Lutz Kirchrath ◽  
Cornelis P. Hollenberg
Keyword(s):  
Atpase Gene ◽  
Chromosome Ii ◽  
P Type

Functional characterization of the copper-transporting P-type ATPase gene of Penicillium janthinellum strain GXCR

2009 ◽  
Vol 47 (6) ◽  
pp. 736-745 ◽  
Author(s):  
Hongmin Lai ◽  
Changbin Sun ◽  
Huaying Tang ◽  
Xianwei Fan ◽  
Yili Ma ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Penicillium Janthinellum ◽  
Atpase Gene ◽  
P Type

Primary structure and evolution of the ATP-binding domains of the P-type ATPases in Tetrahymena thermophila

1997 ◽  
Vol 272 (2) ◽  
pp. C715-C728 ◽  
Author(s):  
S. Wang ◽  
K. Takeyasu
Keyword(s):  
Amino Acid ◽  
Southern Blot ◽  
Blot Analysis ◽  
Multigene Family ◽  
Southern Blot Analysis ◽  
Tetrahymena Thermophila ◽  
Amino Acid Sequences ◽  
Ion Pumps ◽  
Atpase Gene ◽  
P Type

The P-type ATPases (e.g., Na+-K+-ATPase and Ca2+-ATPase) occur widely in living cells of fungi, Protozoa, plants, and animals. These ion pumps show a high degree of divergence in their primary structures but share a limited number of common amino acid residues for their ATP-catalytic function. Particularly, the amino acid sequences for the phosphorylation site (DKTGTLT) and the binding site for ATP (and its analogs; GDGVND) are conserved throughout evolution. Using two degenerate oligonucleotides corresponding to these regions, we applied a polymerase chain reaction (PCR) technique to the search for P-type ATPase isoforms, which will provide a clue to the evolutionary mechanisms of ion pumps in Tetrahymena thermophila. A total of 12 distinct P-type ATPase genes were identified. Sequence comparisons revealed that seven of them can be compiled into a multigene family, which is similar to animal Na+-K+- and H+-K+-ATPase genes. One of them is close to the sarco(endo)plasmic reticulum Ca2+-ATPase gene, and the other four share a significant homology with the gene encoding Plasmodium ATPase-1 whose function is unknown. A Northern blot analysis and reverse transcriptase-PCR demonstrated that all identified genes are expressed, but the expression levels vary widely under different culture conditions. A Southern blot analysis after pulse-field gel electrophoresis showed that all of these genes exist in T. thermophila macronuclei. The Na+-K+- and H+-K+-ATPase gene family has a high multiplicity (at least 10 different genes detected on genomic Southern blot analysis) and is distributed on four different macronuclear chromosomes. On the basis of a calculation with the amino acid sequences of the cloned cytoplasmic loop region (between the phosphorylation and the gamma-[4-(N-2-chloroethyl-N-methylamino)]-benzylamido ATP sites), the genes with >80% identity form a cognate linkage group within the same macronuclei chromosome, whereas the genes with <70% identity are separated in different chromosomes. The phylogenetic analysis showed that this multigene family is the result of a series of gene duplications.

scholarly journals Mutations in a P-Type ATPase Gene Cause Axonal Degeneration

PLoS Genetics ◽  
2012 ◽  
Vol 8 (8) ◽  
pp. e1002853 ◽  
Author(s):  
Xianjun Zhu ◽  
Richard T. Libby ◽  
Wilhelmine N. de Vries ◽  
Richard S. Smith ◽  
Dana L. Wright ◽  
...  
Keyword(s):  
Axonal Degeneration ◽  
Atpase Gene ◽  
P Type
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