Not exact matches
Page and his colleagues, who use animal models to understand how autism risk factors impact the developing brain and to identify potential treatments
for the condition, have found that animals with mutations in the autism risk gene phosphatase and tensin
homolog (Pten) mimic aspects of autism, including increased brain size, social deficits and increased repetitive behavior.
In a report that appears in PLOS BIOLOGY, Dr. Hugo Bellen and his colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and BCM, and Dr. Chao Tong, at the Life Sciences Institute and Innovation Center
for Cell Biology, Zhejiang University in Hangzhou, China, find that mutations of human
homologs (genes that carry out similar functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively) cause defects in autophagy in neurons.
By searching
for gene deletion patterns in cancer through a concept the investigators call «synthetic essentiality,» the team identified a synthetic essential gene known as chromatin helicase DNA - binding factor (CHD1) as a therapeutic target
for prostate and breast cancers lacking a tumor suppressor gene called phosphatase and tensin
homolog (PTEN).
Pten (short
for phosphatase and tensin
homolog) is a tumor suppressor that is defective in about 20 - 25 percent of all patients with cancers.
In a paper published by Scientific Reports today, the research team found the activity of this protein, called PTEN (
for Phosphatase and tensin
homolog deleted on chromosome 10), is different between men and women.
The C. elegans
homolog of nucleoporin Nup98 is required
for the integrity and function of germline P granules.
Little is known about RNF212, though it is a mammalian
homolog of a gene called ZHP - 3 known to be crucial
for the success of recombination in other organisms.
Alignments
for RNA binding domains (RRM) from insects (A) and mammals (B) reveal strong conservation among
homologs.
We therefore examined Boule
homologs that recently diverged from each other
for any signs of adaptive evolution.
However the only Boule
homologs functionally characterized exhibit divergent roles in reproduction, with Drosophila boule necessary
for male reproduction and the C. elegans boule
homolog, daz - 1, required
for egg production [39], [40].
Dazl
homologs contain slightly different consensus sequences
for both RNP2 (VFVGGI) and RNP1 (KGYGFVSF), have distinct sequences surrounding the RNPs, and have a conserved deletion of two amino acids (Figure S2)[35].
While reproductive proteins with conserved
homologs in different phyla are not uncommon, most of them are involved in general cellular functions, and are hence also required
for other non-reproductive processes [18], [19].
Representative species of each major metazoan taxon (mostly phylum) were analyzed
for the presence or absence of Boule and Dazl
homologs.
We separately aligned the protein sequences of known Boule
homologs among two distant metazoan groups, mammals and insects, and established a consensus sequence
for the RNA recognition motif (RRM) in each group (Figure S1).
Starting with the Boule RRM consensus sequence, we used Tblastn to search the genomes of species from major phyla representing the two clades of Bilaterians, deuterostomes and protostomes,
for Boule
homologs.
List of primers used
for RT - PCR and qRT - PCR analyses of Chicken, Sea urchin and mouse Boule
homologs.
Using the Dazl RRM domain, we searched
for Dazl
homologs in the genomes of acorn worm from Hemichordata (Saccoglossus kowalevskii), sea urchin from Echinodermata (Strongylocentrotus purpuratus), lancelet from Cephalochordata (Branchiostoma floridae), and sea squirt from Tunicata (Ciona intestinalis).
However, Boule
homologs have been maintained throughout all major lineages of animals from a common eumetazoan ancestral gene and are required only
for sperm development in both Drosophila and mice.
While meiosis is fundamental to sexual reproduction and key components of meiotic machinery
for chromosomal synapses and recombination are conserved from yeast to mammals [2], [76], the absence of Boule
homologs in fungi together with the requirement of Boule
homologs in only one sex of animals suggest that conservation of Boule is unlikely due to the same functional constraint that keeps components of meiotic machinery conserved.
For known Boule
homologs, DNA sequences from various species were retrieved from the literature and the Genbank database.
Loss - of - function phenotypes of Boule
homologs in Drosophila and Caenorhabditis elegans reveal their divergent roles in reproduction, with boule required
for male reproduction in flies and
for oogenesis in the worm [39], [40].
Ka / Ks ratio analysis also failed to identify any evidence
for accelerated evolution among mammalian Boule
homologs.
The mechanistic target of rapamycin (mTOR) and the silent mating - type information regulation 2
homolog 1 (SIRT1): oversight
for neurodegenerative disorders
Since the nematode Boule
homolog is only required
for ovarian function but not male gametogenesis, and Boule transcripts have been detected in the ovaries as well as in the testes of some other species [53], [57], [59], we wondered if such ovarian expression in sporadic species is a lineage - specific phenomenon or if it is a common feature.
A system
for automated detection of
homologs among the annotated genes of several completely sequenced eukaryotic genomes.
With the discovery of Asgard» clade archaea, the
homologs of key eukaryote cytoskeletal proteins have,
for the first time, been identified in archaea.
For example, clusters containing genes that are upregulated during the course of ES cell differentiation (Table 3) include in order of time of expression: cluster 30 that represents genes which take part in the formation of the three embryonic germ layers during gastrulation, i.e., Goosecoid, Cerberus like 1 homolog, Wnt3, Mesp1, Mixl1, mEomes and Even - skipped 1; cluster 15 containing molecular regulators of early mesoderm development including Bmp2, Bmp5, Msx1, Msx2, Cripto, Tbx20, Hey2, Smad6, Vegfr2 (Kdr), Foxf1 and Hand1; cluster 20, which comprises regulatory and structural genes linked to hemopoiesis such as Gata1, Nfe2, Klf1, Tie1, hemoglobins (Hba - x, Hbb - b1) and Glycophorin A; cluster 12, which is rich in genes involved in cardiac development, e.g., Mef2c, Myl4, cardiac Troponin T2, Tropomodulin 1, myosin binding protein C, Bves, Angiopoietin 1 and Angiopoietin 2; and, cluster 4, which consists mostly of genes associated with neuronal development and differentiation, for example, Neurog1, Neurog2, Olig2, Nkx6.1, Neurod4, Pou3f2, Pou3f4, Cacna2d3, Cacng4, Kcnq2 and Eph
For example, clusters containing genes that are upregulated during the course of ES cell differentiation (Table 3) include in order of time of expression: cluster 30 that represents genes which take part in the formation of the three embryonic germ layers during gastrulation, i.e., Goosecoid, Cerberus like 1
homolog, Wnt3, Mesp1, Mixl1, mEomes and Even - skipped 1; cluster 15 containing molecular regulators of early mesoderm development including Bmp2, Bmp5, Msx1, Msx2, Cripto, Tbx20, Hey2, Smad6, Vegfr2 (Kdr), Foxf1 and Hand1; cluster 20, which comprises regulatory and structural genes linked to hemopoiesis such as Gata1, Nfe2, Klf1, Tie1, hemoglobins (Hba - x, Hbb - b1) and Glycophorin A; cluster 12, which is rich in genes involved in cardiac development, e.g., Mef2c, Myl4, cardiac Troponin T2, Tropomodulin 1, myosin binding protein C, Bves, Angiopoietin 1 and Angiopoietin 2; and, cluster 4, which consists mostly of genes associated with neuronal development and differentiation,
for example, Neurog1, Neurog2, Olig2, Nkx6.1, Neurod4, Pou3f2, Pou3f4, Cacna2d3, Cacng4, Kcnq2 and Eph
for example, Neurog1, Neurog2, Olig2, Nkx6.1, Neurod4, Pou3f2, Pou3f4, Cacna2d3, Cacng4, Kcnq2 and EphA5.
We initially searched
for previously reported ncRNAs and found nine murine ncRNAs and
homologs of several previously described nonmouse ncRNAs.
T - box transcription factors T / Brachyury
homolog A (Ta) and Tbx16 are essential
for correct mesoderm development in zebrafish.