A. Gregory Matera
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View article: Chromatin insulators in gene regulation and 3D genome organization
Chromatin insulators in gene regulation and 3D genome organization Open
The human genome attains an amazing spatial organization in the packaging of 2 m of DNA into a 10-μm nucleus. Such structural organization is achieved by the folding of chromatin and the regulation exerted by architectural proteins such as…
View article: Redesigning the Drosophila histone gene cluster: an improved genetic platform for spatiotemporal manipulation of histone function
Redesigning the Drosophila histone gene cluster: an improved genetic platform for spatiotemporal manipulation of histone function Open
Mutating replication-dependent (RD) histone genes is an important tool for understanding chromatin-based epigenetic regulation. Deploying this tool in metazoans is particularly challenging because RD histones in these organisms are typical…
View article: Evidence for dual roles of histone H3 lysine 4 in antagonizing Polycomb group function and promoting target gene expression.
Evidence for dual roles of histone H3 lysine 4 in antagonizing Polycomb group function and promoting target gene expression. Open
Tight control over cell identity gene expression is necessary for proper adult form and function. The opposing activities of Polycomb and trithorax complexes determine the on/off state of cell identity genes such as the Hox factors. Polyco…
View article: Chaperone dysfunction in motor neuron disease: new insights from studies of the SMN complex
Chaperone dysfunction in motor neuron disease: new insights from studies of the SMN complex Open
Spinal muscular atrophy and amyotrophic lateral sclerosis are devastating neurodegenerative diseases characterized by motor neuron loss. Although these 2 disorders have distinct genetic origins, recent studies suggest that they share commo…
View article: Editorial: Ribonucleoprotein formation and regulation
Editorial: Ribonucleoprotein formation and regulation Open
Messenger RNA (mRNA) does not exist naked in the cell. Rather, mRNAs are bound to proteins that facilitate their processing from pre-mRNA, transport to the cytoplasm, and translation into proteins. Other types of RNA, such as ribosomal RNA…
View article: Evidence for dual roles of histone H3 lysine 4 in antagonizing Polycomb group function and promoting target gene expression
Evidence for dual roles of histone H3 lysine 4 in antagonizing Polycomb group function and promoting target gene expression Open
Tight control over cell identity gene expression is necessary for proper adult form and function. The opposing activities of Polycomb and trithorax complexes determine the on/off state of cell identity genes such as the Hox factors. Polyco…
View article: Set2 and H3K36 regulate the <i>Drosophila</i> male X chromosome in a context-specific manner, independent from MSL complex spreading
Set2 and H3K36 regulate the <i>Drosophila</i> male X chromosome in a context-specific manner, independent from MSL complex spreading Open
Dosage compensation in Drosophila involves upregulating male X-genes 2-fold. This process is carried out by the MSL (male-specific lethal) complex, which binds high-affinity sites and spreads to surrounding genes. Current models of MSL spr…
View article: Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network
Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network Open
Introduction Molecular chaperones and co-chaperones are highly conserved cellular components that perform a variety of duties related to the proper three-dimensional folding of the proteome. The web of factors that carries out this essenti…
View article: Nuclear bodies: concentrating at an aqueous site, with momentum.
Nuclear bodies: concentrating at an aqueous site, with momentum. Open
The second FASEB conference on Nuclear Bodies: Hubs of Genome Activity was held June 2-7, 2024, at Niagara Falls, NY. The central theme was how these protein and RNA-protein complexes that are situated in the nucleus outside the genome sup…
View article: Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network
Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network Open
Introduction Molecular chaperones and co-chaperones are highly conserved cellular components that perform a variety of duties related to the proper three-dimensional folding of the proteome. The web of factors that carries out this essenti…
View article: Nuclear bodies: concentrating at an aqueous site
Nuclear bodies: concentrating at an aqueous site Open
The second FASEB conference on Nuclear Bodies: Hubs of Genome Activity was held June 2-7, 2024, at Niagara Falls, NY. The central theme was how these protein and RNA-protein complexes that are situated in the nucleus outside the genome sup…
View article: Lysine-36 of Drosophila histone H3.3 supports adult longevity
Lysine-36 of Drosophila histone H3.3 supports adult longevity Open
Aging is a multifactorial process that disturbs homeostasis, increases disease susceptibility, and ultimately results in death. Although the definitive set of molecular mechanisms responsible for aging remain to be discovered, epigenetic c…
View article: Molecular determinants of metazoan tricRNA biogenesis
Molecular determinants of metazoan tricRNA biogenesis Open
Mature tRNAs are generated by multiple post-transcriptional processing steps, which can include intron removal. Recently, we discovered a new class of circular non-coding RNAs in metazoans, called tRNA intronic circular (tric)RNAs. To inve…
View article: Reconstitution of the human tRNA splicing endonuclease complex: insight into the regulation of pre-tRNA cleavage
Reconstitution of the human tRNA splicing endonuclease complex: insight into the regulation of pre-tRNA cleavage Open
The splicing of tRNA introns is a critical step in pre-tRNA maturation. In archaea and eukaryotes, tRNA intron removal is catalyzed by the tRNA splicing endonuclease (TSEN) complex. Eukaryotic TSEN is comprised of four core subunits (TSEN5…
View article: tRNA introns: Presence, processing, and purpose
tRNA introns: Presence, processing, and purpose Open
The presence of introns in both protein-coding and noncoding RNA transcripts is a fascinating phenomenon. It seems counterintuitive that an organism would devote precious time and energy to removing a nucleic acid sequence that will not be…
View article: Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCFSlmb degron
Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCFSlmb degron Open
Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1 Expression of a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein isoform, SMNΔ7. Although SMN2 exon skipping i…
View article: Mutations in Drosophila tRNA processing factors cause phenotypes similar to Pontocerebellar Hypoplasia
Mutations in Drosophila tRNA processing factors cause phenotypes similar to Pontocerebellar Hypoplasia Open
Mature transfer (t)RNAs are generated by multiple RNA processing events, which can include the excision of intervening sequences. The tRNA splicing endonuclease (TSEN) complex is responsible for cleaving these intron-containing pre-tRNA tr…
View article: Redesigning the <i>Drosophila</i> histone gene cluster: an improved genetic platform for spatiotemporal manipulation of histone function
Redesigning the <i>Drosophila</i> histone gene cluster: an improved genetic platform for spatiotemporal manipulation of histone function Open
Mutating replication-dependent (RD) histone genes is an important tool for understanding chromatin-based epigenetic regulation. Deploying this tool in metazoans is particularly challenging because RD histones in these organisms are typical…
View article: Dual roles of histone H3 lysine-4 in antagonizing Polycomb group function and promoting target gene expression
Dual roles of histone H3 lysine-4 in antagonizing Polycomb group function and promoting target gene expression Open
Tight control over cell identity gene expression is necessary for proper adult form and function. The opposing activities of Polycomb and trithorax complexes determine the ON/OFF state of targets like the Hox genes. Trithorax encodes a met…
View article: Chaperoning the chaperones: Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network
Chaperoning the chaperones: Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network Open
Molecular chaperones and co-chaperones are highly conserved cellular components that perform variety of duties related to the proper three-dimensional folding of the proteome. The web of factors that carries out this essential task is call…
View article: Set2 and H3K36 regulate the<i>Drosophila</i>male X chromosome in a context-specific manner, independent from MSL complex spreading
Set2 and H3K36 regulate the<i>Drosophila</i>male X chromosome in a context-specific manner, independent from MSL complex spreading Open
Dosage compensation in Drosophila involves upregulating male X-genes two-fold. This process is carried out by the MSL (male-specific lethal) complex, which binds high-affinity sites and spreads to surrounding genes. Current models of MSL s…
View article: Redesigning the<i>Drosophila</i>histone gene cluster: An improved genetic platform for spatiotemporal manipulation of histone function
Redesigning the<i>Drosophila</i>histone gene cluster: An improved genetic platform for spatiotemporal manipulation of histone function Open
Mutating replication-dependent (RD) histone genes is an important tool for understanding chromatin-based epigenetic regulation. Deploying this tool in metazoan models is particularly challenging because RD histones in these organisms are t…
View article: Lysine-36 of <i>Drosophila</i> histone H3.3 supports adult longevity
Lysine-36 of <i>Drosophila</i> histone H3.3 supports adult longevity Open
Aging is a multifactorial process that disturbs homeostasis, increases disease susceptibility, and ultimately results in death. Although the definitive set of molecular mechanisms responsible for aging remain to be discovered, epigenetic c…
View article: Dysregulation of innate immune signaling in animal models of Spinal Muscular Atrophy
Dysregulation of innate immune signaling in animal models of Spinal Muscular Atrophy Open
Background Spinal Muscular Atrophy (SMA) is a devastating neuromuscular disease caused by hypomorphic loss of function in the Survival Motor Neuron (SMN) protein. SMA presents across broad spectrum of disease severity. Unfortunately, verte…
View article: A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization
A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization Open
The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions of survival motor neuron 1 (SMN1). We report a case in which the patient has two copies of SMN1 but clinically presents as Type 0 S…