scholarly journals Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes

1999 ◽  
Vol 8 (7) ◽  
pp. 1313-1320 ◽  
Author(s):  
J. Gilley
Genetics ◽  
2006 ◽  
Vol 174 (1) ◽  
pp. 377-386 ◽  
Author(s):  
Niclas Backström ◽  
Mikael Brandström ◽  
Lars Gustafsson ◽  
Anna Qvarnström ◽  
Hans Cheng ◽  
...  

1992 ◽  
Vol 3 (1) ◽  
pp. 23-27 ◽  
Author(s):  
Tsutomu Koizumi ◽  
Marcy MacDonald ◽  
Maja B�can ◽  
John J. Hopwood ◽  
C. Phillip Morris ◽  
...  

2001 ◽  
Vol 12 (5) ◽  
pp. 397-399 ◽  
Author(s):  
Christopher K. Tuggle ◽  
Carine Genêt ◽  
Xian-Wei Shi ◽  
Patrick Chardon ◽  
Ibis Sanchez-Serrano ◽  
...  

2002 ◽  
Vol 13 (6) ◽  
pp. 310-315 ◽  
Author(s):  
Jacqueline Smith ◽  
Ian R. Paton ◽  
Frazer Murray ◽  
Richard P.M.A. Crooijmans ◽  
Martien A.M. Groenen ◽  
...  

2019 ◽  
Vol 19 (6) ◽  
Author(s):  
Alexander P Douglass ◽  
Kevin P Byrne ◽  
Kenneth H Wolfe

ABSTRACT The yeast family Pichiaceae, also known as the ‘methylotrophs clade’, is a relatively little studied group of yeasts despite its economic and clinical relevance. To explore the genome evolution and synteny relationships within this family, we developed the Methylotroph Gene Order Browser (MGOB, http://mgob.ucd.ie) similar to our previous gene order browsers for other yeast families. The dataset contains genome sequences from nine Pichiaceae species, including our recent reference sequence of Pichia kudriavzevii. As an example, we demonstrate the conservation of synteny around the MOX1 locus among species both containing and lacking the MOX1 gene for methanol assimilation. We found ancient clusters of genes that are conserved as adjacent between Pichiaceae and Saccharomycetaceae. Surprisingly, we found evidence that the locations of some centromeres have been conserved among Pichiaceae species, and between Pichiaceae and Saccharomycetaceae, even though the centromeres fall into different structural categories—point centromeres, inverted repeats and retrotransposon cluster centromeres.


Hereditas ◽  
2004 ◽  
Vol 140 (3) ◽  
pp. 249-251 ◽  
Author(s):  
ALEXEI A. SAZANOV ◽  
ANNA L. SAZANOVA ◽  
VIKTORIA A. TZAREVA ◽  
ALEXANDRA A. KOZYREVA ◽  
ALEXANDR F. SMIRNOV ◽  
...  

2021 ◽  
Author(s):  
Nelson T. Chuang ◽  
Eugene J. Gardner ◽  
Diane M. Terry ◽  
Jonathan Crabtree ◽  
Anup A. Mahurkar ◽  
...  

Several large-scale Illumina whole-genome sequencing (WGS) and whole-exome sequencing (WES) projects have emerged recently that have provided exceptional opportunities to discover mobile element insertions (MEIs) and study the impact of these MEIs on human genomes. However, these projects also have presented major challenges with respect to the scalability and computational costs associated with performing MEI discovery on tens or even hundreds of thousands of samples. To meet these challenges, we have developed a more efficient and scalable version of our mobile element locator tool (MELT) called CloudMELT. We then used MELT and CloudMELT to perform MEI discovery in 57,919 human genomes and exomes, leading to the discovery of 104,350 nonredundant MEIs. We leveraged this collection (1) to examine potentially active L1 source elements that drive the mobilization of new Alu, L1, and SVA MEIs in humans; (2) to examine the population distributions and subfamilies of these MEIs; and (3) to examine the mutagenesis of GENCODE genes, ENCODE-annotated features, and disease genes by these MEIs. Our study provides new insights on the L1 source elements that drive MEI mutagenesis and brings forth a better understanding of how this mutagenesis impacts human genomes.


2001 ◽  
Vol 94 (1-2) ◽  
pp. 49-54 ◽  
Author(s):  
A. Goureau ◽  
A. Garrigues ◽  
G. Tosser-Klopp ◽  
Y. Lahbib-Mansais ◽  
P. Chardon ◽  
...  

2017 ◽  
Author(s):  
Jochen Weile ◽  
Song Sun ◽  
Atina G. Cote ◽  
Jennifer Knapp ◽  
Marta Verby ◽  
...  

AbstractAlthough we now routinely sequence human genomes, we can confidently identify only a fraction of the sequence variants that have a functional impact. Here we developed a deep mutational scanning framework that produces exhaustive maps for human missense variants by combining random codon-mutagenesis and multiplexed functional variation assays with computational imputation and refinement. We applied this framework to four proteins corresponding to six human genes: UBE2I (encoding SUMO E2 conjugase), SUMO1 (small ubiquitin-like modifier), TPK1 (thiamin pyrophosphokinase), and CALM1/2/3 (three genes encoding the protein calmodulin). The resulting maps recapitulate known protein features, and confidently identify pathogenic variation. Assays potentially amenable to deep mutational scanning are already available for 57% of human disease genes, suggesting that DMS could ultimately map functional variation for all human disease genes.


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