A5076471374- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- Cancer-related gene regulation
- Renal and related cancers
- Genetic and Kidney Cyst Diseases
- Hearing, Cochlea, Tinnitus, Genetics
- RNA regulation and disease
- Medical Imaging Techniques and Applications
- Advancements in Photolithography Techniques
- Acute Myeloid Leukemia Research
- DNA and Nucleic Acid Chemistry
- Genetic Syndromes and Imprinting
- Ubiquitin and proteasome pathways
- Wnt/β-catenin signaling in development and cancer
- Fetal and Pediatric Neurological Disorders
- Chronic Lymphocytic Leukemia Research
- CRISPR and Genetic Engineering
- Cancer-related molecular mechanisms research
- DNA Repair Mechanisms
- Cancer-related Molecular Pathways
- Muscle Physiology and Disorders
The University of Texas Medical Branch at Galveston
2016-2022
University of Pennsylvania
2017-2022
The University of Texas Health Science Center at Houston
2014-2016
Yale University
2016
University of Houston
2013
Integrator (INT) is a transcriptional regulatory complex associated with RNA polymerase II that required for the 3'-end processing of both UsnRNAs and enhancer RNAs. subunits 9 (INTS9) INTS11 constitute catalytic core INT are paralogues cleavage polyadenylation specificity factors CPSF100 CPSF73. While CPSF73/100 known to associate third protein called Symplekin, there no paralog Symplekin within raising question how INTS9/11 other subunits. Here, we have identified INTS4 specific conserved...
Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations the face and oral cavity, digit anomalies. Mutations within 12 cilia-related genes have been identified that cause several types OFD, suggesting OFDs constitute subgroup developmental ciliopathies. Through homozygosity mapping exome sequencing two families with variable OFD type 2, we distinct germline variants in INTS13, subunit Integrator complex. This multiprotein complex...
Alternative polyadenylation (APA) and alternative splicing (AS) provide mRNAs with the means to avoid microRNA repression through selective shortening or differential usage of 3′UTRs. The two glutaminase (GLS) mRNA isoforms, termed KGA GAC, contain distinct 3′UTRs isoform subject by miR-23. We show that depletion APA regulator CFIm25 causes a strong shift proximal poly(A) site within 3′UTR also alters favor exclusion GAC 3′UTR. Surprisingly, we observe while miR-23 is capable down-regulating...
Structural alterations in DNA can serve as natural impediments to replication fork stability and progression, resulting damage genomic instability. Naturally occurring polypurine mirror repeat sequences the human genome create endogenous triplex structures evoking a robust response. Failures recognize or adequately process these lesions result loss of integrity. Nucleotide excision repair (NER) proteins have been found play prominent role recognition structures. We demonstrate using...
Highlights•Ablation of Esrp1 and Esrp2 in mouse epidermis leads to tight junction defects•A switch splicing exon 37 Arhgef11 transcripts produces isoforms that bind Pak4•Inhibition by Pak4 causes a reduction RhoA activation at junctions•Restoration epithelial partially rescues defectsSummaryThe epithelial-specific regulators are required for mammalian development, including establishment epidermal barrier functions. However, the mechanisms which Esrp ablation defects barriers remain...
Control over gene expression is exerted, in multiple stages of spermatogenesis, at the post-transcriptional level by RNA binding proteins (RBPs). We identify here an essential role mammalian spermatogenesis and male fertility for ‘RNA protein 46’ (RBM46). A highly evolutionarily conserved gene, Rbm46 also both flies fish. found was restricted to mouse germline, detectable males cytoplasm premeiotic spermatogonia meiotic spermatocytes. To define its requirement we generated knockout (KO, -/-...
The epithelial splicing regulatory proteins, ESRP1 and ESRP2, are essential for mammalian development through the regulation of a global program alternative genes involved in maintenance cell function. To further inform our understanding molecular functions ESRP1, we performed enhanced crosslinking immunoprecipitation coupled with high-throughput sequencing (eCLIP) cells mouse epidermis. genome-wide binding sites were integrated RNA-Seq analysis alterations total gene expression that result...
The concept of mRNA 3'-end formation as a static, minimally regulated housekeeping process has undergone paradigm shift. Many recent studies have shown that accurate and efficient is highly dysregulation this hallmark several diseases. While there are many global analysis methods for monitoring altered processing, investigating specific RNA processing events in cells not significantly changed. Here we describe facile gain-of-function cellular reporter the an alternative to approaches...
ABSTRACT Oral-facial-digital syndromes (OFD) are a heterogeneous group of congenital disorders characterized by malformations the face and oral cavity, digit anomalies. To date, mutations in 12 ciliary-related genes have been identified that cause several types OFD, suggesting OFDs constitute subgroup developmental ciliopathies. Through homozygosity mapping exome sequencing two families with variable OFD type 2, we distinct germline INTS13 , subunit Integrator complex. This 14-component...
Abstract Integrator (INT) is a transcriptional regulatory complex associated with RNA polymerase II that required for the 3’-end processing of both UsnRNAs and enhancer RNAs. subunits 9 (INTS9) INTS11 constitute catalytic core INT are paralogues cleavage polyadenylation specificity factors CPSF100 CPSF73. While CPSF73/100 known to associate third protein called Symplekin, there no paralog Symplekin within raising question how INTS9/11 other subunits. Here, we have identified INTS4 specific...
The epithelial splicing regulatory proteins, ESRP1 and ESRP2 are essential for mammalian development through regulation of a global program alternative genes involved in maintenance cell function. To further inform our understanding the molecular functions we performed enhanced crosslinking immunoprecipitation coupled with high throughput sequencing (eCLIP) cells mouse epidermis. genome-wide binding sites were integrated RNA-Seq analysis alterations total gene expression that result from...
The epithelial splicing regulatory proteins, ESRP1 and ESRP2 are essential for mammalian development through regulation of a global program alternative genes involved in maintenance cell function. To further inform our understanding the molecular functions we performed enhanced crosslinking immunoprecipitation coupled with high throughput sequencing (eCLIP) cells mouse epidermis. genome-wide binding sites were integrated RNA-Seq analysis alterations total gene expression that result from...