Abstract
We report a role for protein phosphatase 2A (PP2A) in centriole duplication. We find that the PP2A catalytic subunit LET-92, the scaffolding subunit PAA-1, and the B55 regulatory subunit SUR-6 function together to positively regulate centriole assembly. In PP2A-SUR-6-depleted embryos, the levels of...
|
PMID: 21497766
PDF is available here.
Abstract
We collected and analyzed data for Sox group B from 36 species of 12 phyla representing the major metazoan clades, with an emphasis on arthropods, to reconstruct the evolutionary history of SoxB in bilaterians and to date the expansion of Sox group B in insects. We found that the genome of the bilat...
|
PMID: 21305035
PDF is available here.
Abstract
We identified 25 individuals with abnormal CNVs on chromosome 22, representing 1.5% of the cases analyzed in this cohort. Meanwhile, we detected 1,298 benign CNVs on this chromosome in these individuals. Twenty-one of the 25 abnormal CNVs and the majority of the benign CNVs occurred through involvem...
|
PMID: 21849782
PDF is available here.
Abstract
ABSTRACT:
The degree of metal binding specificity in metalloproteins such as metallothioneins (MTs) can be crucial for their functional accuracy. Unlike most other animal species, pulmonate molluscs possess homometallic MT isoforms loaded with Cu+ or Cd2+. They have, so far, been obtained as native...
|
PMID: 21255385
PDF is available here.
Abstract
The nucleus is organized and compartmentalized into a highly ordered structure that contains DNA, RNA, chromosomal and histone proteins. The dynamics associated with these various components are responsible for making sure that the DNA is properly duplicated, genes are properly trans...
|
PMID: 20855937
PDF is available here.
Abstract
We review the mechanisms that increase or decrease the probability of fixation or maintenance of duplicated genes, and examine the outcome of these events on the adaptation of the organisms....
|
PMID: 21333002
PDF is available here.
Abstract
Our method performs as well as GRIMM-Synteny on mammalian genomes, and outperforms it for clades with much greater evolutionary distances such as the Hemiascomycetous yeasts....
|
PMID: 21441096
PDF is available here.
Abstract
SAL1 (salivary lipocalin) is a member of the OBP (Odorant Binding Protein) family and is involved in chemical sexual communication in pig. SAL1 and its relatives may be involved in pheromone and olfactory receptor binding and in pre-mating behaviour. The evolutionary history and the selective pressur...
|
PMID: 21619679
PDF is available here.
Abstract
We have identified and annotated the SERK genes in this species. Using degenerate PCR and database mining, eight more SERK-like genes have been identified and these have been shown to be expressed. The amplification and sequencing of several different PCR products from one of these genes is consiste...
|
PMID: 21385462
PDF is available here.
Abstract
We demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kilobase pairs, ranging from 0 to 48 copies. We identified 4.1 million "singly unique nucleotide" positions informative in distinguishing specific copies and used them to genotype the copy and content of spe...
|
PMID: 21030649
PDF is available here.
Abstract
We explore the alternation of short protein-coding segments with long noncoding spacers in entire chromosomes, focusing on the scaling properties of block entropy. In previous studies, it has been shown that the sizes of noncoding spacers follow power-law-like distributions in most chromosomes of eu...
|
PMID: 21230510
PDF is available here.
Abstract
We suggest that the prevalence of WW domain-mediated complexes in the Hippo pathway should facilitate its molecular analysis and aid prediction of new pathway components.
Copyright © 2010 Elsevier Ltd. All rights reserved....
|
PMID: 20598891
PDF is available here.
Abstract
In order to identify biomarkers useful for the diagnosis of genetic white matter disorders we compared the metabolic profile of patients with leukodystrophies with a hypomyelinating or a non-hypomyelinating MRI pattern.
|
PMID: 20637281
PDF is available here.
Abstract
We propose that expression reduction, a special type of subfunctionalization, facilitates the retention of duplicates and the conservation of their ancestral functions. Consistent with this hypothesis, gene expression data from both yeasts and mammals show a substantial decrease in the level of gene...
|
PMID: 20708291
PDF is available here.
Abstract
We have analysed 80 samples (42 unknown CF alleles) applying three quantitative technologies (MLPA, qPCR and array-CGH) to detect recurrent as well as novel large rearrangements in the Spanish CF population. Three deletions and one duplication have been identified in five alleles (12%). Interestingl...
|
PMID: 20560922
PDF is available here.
Françoise F Devillard,
Vincent V Guinchat,
Daniel D Moreno-De-Luca,
Anne-Claude AC Tabet,
Nicolas N Gruchy,
Pascale P Guillem,
Marie-Ange MA Nguyen Morel,
Nathalie N Leporrier,
Marion M Leboyer,
Pierre-Simon PS Jouk,
James J Lespinasse and
Catalina C Betancur
Abstract
We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The i...
|
PMID: 20684015
PDF is available here.
Abstract
We traced the origin of the fibulin gene family to the base of the metazoans. In invertebrates, Fibulin-1 and Hemicentin comprise the fibulin gene set. Diversification of the fibulins took place in the last common ancestor to the chordates by gene duplication of an ancestral Fibulin-1 gene. Further...
|
PMID: 20595023
PDF is available here.
L Volpi,
G Ricci,
C Passino,
E Di Pierri,
G Alì,
M Maccherini,
S Benedetti,
G Lattanzi,
M Columbaro,
M Ferrari,
D Caramella,
P Tanganelli,
M Emdin and
G Siciliano
Abstract
We report on a novel autosomal dominant mutation in LMNA in two direct relatives presenting with different clinical phenotypes, characterized by severe life-threatening limb-girdle muscle involvement and cardiac dysfunction treated with heart transplantation in the proband, and by ventricular tachya...
|
PMID: 20580235
PDF is available here.
Abstract
We identified six SS genes in zebrafish and named them SS1, SS2, SS3, SS4, SS5 and SS6. We subsequently found that five SS genes (SS1, SS2, SS3, SS4 and SS5) also existed in stickleback, medaka, Takifugu and Tetraodon. Phylogenetic analysis showed that vertebrate SS genes were grouped into five clad...
|
PMID: 20472043
PDF is available here.
Abstract
We here describe the clinical and cytogenomic correlates of a novel microdeletion/microduplication of 19p13.13.
Among patients referred to the Cytogenetics laboratory for array-based comparative genomic hybridization analysis, we identified four with a deletion and one with a duplication within 19p1...
|
PMID: 20613546
PDF is available here.
Abstract
We review the pleiotropic effects of mutations. We discuss how they affect the evolution of gene and protein function, and how these complex mutational effects dictate the likelihood and mechanism of gene duplication and divergence. We propose several factors that can affect the divergence of new pr...
|
PMID: 20634811
PDF is available here.
Lucie Tosca,
Sophie Brisset,
François M Petit,
Laure Lecerf,
Ghislaine Rousseau,
Cécile Bas,
Mireille Laroudie,
Marie-Laure Maurin,
Sylvie Tapia,
Olivier Picone,
Sophie Prevot,
Michel Goossens,
Philippe Labrune and
Gérard Tachdjian
Abstract
We report on two siblings who carried identical pure and direct interstitial 4q22.2q32.3 duplication. Procedure investigations included complete clinical description, conventional cytogenetic analysis, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH) array experimen...
|
PMID: 20424646
PDF is available here.
Tom T Walsh,
Sarah B SB Pierce,
Danielle R DR Lenz,
Zippora Z Brownstein,
Orit O Dagan-Rosenfeld,
Hashem H Shahin,
Wendy W Roeb,
Shane S McCarthy,
Alex S AS Nord,
Carlos R CR Gordon,
Ziva Z Ben-Neriah,
Jonathan J Sebat,
Moien M Kanaan,
Ming K MK Lee,
Moshe M Frydman,
Mary-Claire MC King and
Karen B KB Avraham
Abstract
These results suggest that TJP2- and GSK-3beta-mediated increased susceptibility to apoptosis of cells of the inner ear is the mechanism for adult-onset hearing loss in this kindred and may serve as one model for age-related hearing loss in the general population....
|
PMID: 20602916
PDF is available here.
Abstract
We demonstrate how expansion of an ancient genome before the cyclostome-gnathostome split, followed by reciprocal gene loss, can cause this incongruence. This is sometimes referred to as 'hidden paralogy'....
|
PMID: 21558193
PDF is available here.
Abstract
We report on a female patient who presented within the first year of life with plagiocephaly, speech delay, and epilepsy. Brain MRI showed a relatively thin cerebral cortex, abnormal periventricular white matter, and abnormal vessels in the left inferior parietal region. Cytogenetic and microsatelli...
|
PMID: 20578133
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We examine the role of Globosa (GLO)-like genes, members of the B-class MADS box gene lineage, in the evolution of floral development within the monocot order Zingiberales. *We assessed changes in perianth and stamen whorl morphology in a phylogenetic framework. We identified GLO homologs (ZinGLO1-4...
|
PMID: 20456055
PDF is available here.
Abstract
We review the clinical and molecular findings and the recent insights on genomic disorders associated with CNVs involving the 7q11.23 region....
|
PMID: 20437059
PDF is available here.
Abstract
We review the clinical and molecular findings and the recent insights on genomic disorders associated with CNVs involving the 7q11.23 region....
|
PMID: 20437059
PDF is available here.