Stephen N. Jones

University of Massachusetts Chan Medical School

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

Rachel M. Gerstein

University of Massachusetts Chan Medical School

Yahui Kong

Shandong University

Charusheila Ramkumar

University of Agricultural Sciences, Bangalore

Suyang Hao

Methodist Hospital

Hang Cui

First Teaching Hospital of Tianjin University of Traditional Chinese Medicine

André J. van Wijnen

University of Vermont

Jane B. Lian

Massachusetts Institute of Technology

Janet L. Stein

University of Vermont

Hugh Gannon

Q Therapeutics (United States)

Hong Zhang

University of Massachusetts Chan Medical School

Cooperative Institutions

University of Massachusetts Chan Medical School

170

Baylor College of Medicine

Harvard University

Howard Hughes Medical Institute

PTC Therapeutics (United States)

The University of Texas MD Anderson Cancer Center

National Institutes of Health

Dana-Farber Cancer Institute

Vanderbilt University

University of California, Los Angeles

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

Coxsackievirus and adenovirus receptor is essential for cardiomyocyte development

genesis (2005)

Damon R. Asher Anna Cerny Sarah R. Weiler James W. Horner Marilyn L. Keeler

The coxsackievirus and adenovirus receptor (CAR) is a transmembrane protein that is known to be a site of viral attachment and entry, but its physiologic functions are undefined. CAR expression is maximal in neonates and wanes rapidly after birth in organs such as heart, muscle, and brain, suggesting that CAR plays a role in the development of these tissues. Here, we show that CAR deficiency resulted in an embryonic lethal condition associated with cardiac defects. Specifically, commencing approximately 10.5 days postconception (dpc), CAR-/- cardiomyocytes exhibited regional apoptosis evidenced by both histopathologic features of cell death and positive staining for the apoptotic marker cleaved caspase 3. CAR-/- fetuses invariably suffered from degeneration of the myocardial wall and thoracic hemorrhaging, leading to death by 11.5 dpc. These findings are consistent with the view that CAR provides positive survival signals to cardiomyocytes that are essential for normal heart development.

Coxsackievirus

10.1002/gene.20127

Cite

Citations (92)

Regulation of p53 stability by Mdm2

Nature (1997)

Michael H.G. Kubbutat Stephen N. Jones Karen H. Vousden

P53 protein

10.1038/387299a0

Cite

Citations (3,254)

Nuclease sensitive element binding protein 1 gene disruption results in early embryonic lethality

Journal of Cellular Biochemistry (2006)

Fan Lin Stephen N. Jones Carolyn Padden Qichang Shen Peter E. Newburger

Nuclease sensitive element binding protein 1 (NSEP1) is a member of the EFIA/NSEP1/YB-1 family of DNA-binding proteins whose members share a cold shock domain; it has also been termed DNA-binding protein B and Y box binding protein-1 because of its recognition of transcriptional regulatory elements. In addition, NSEP1 functions in the translational regulation of renin, ferritin, and interleukin 2 transcripts, and our laboratory has reported that it plays a role in the biosynthesis of selenium-containing proteins. To test the functional importance of NSEP1 in murine embryonic development, we have utilized a clone of ES cells in which the NSEP1 gene had been disrupted by integration of a plasmid gene-trapping vector into the seventh exon. Injection of these cells into C57BL/6 blastocysts resulted in 11 high percentage chimeric mice; crosses to wild type C57BL/6 mice generated 82 F1 agouti mice, indicating germ line transmission of the ES cell clone, but genotyping showed no evidence of the disrupted allele in any of these agouti offspring even though spermatozoa from four of five tested mice contained the targeted allele. Embryos harvested after timed matings of chimeric male mice demonstrated only the wildtype allele in 27 embryos tested at E7.5, E12.5, and E18.5. These results suggest that gene targeting of NSEP1 induces a lethal phenotype in early embryos, due to either haploinsufficiency of NSEP1 or formation of a dominant negative form of the protein. In either case, these data indicate the functional importance of the NSEP1 gene in murine early embryonic development.

10.1002/jcb.20911

Cite

Citations (10)

Retroviral-Mediated Gene Transfer of Human Ornithine Transcarbamylase into Primary Hepatocytes of spf and spf-ash Mice

Human Gene Therapy (1992)

Markus Grompe Stephen N. Jones Hermela Loulseged C. Thomas Caskey

The sparse fur (spf) and the sparse fur/abnormal skin and hair (spf-ash) mice are two murine models of the human X-linked disorder ornithine transcarbamylase (OTC) deficiency. A defective recombinant retrovirus, ΔN2OTC was used to transduce primary hepatocytes derived from these mutant animals. Transduction of the primary cultures was highly efficient, with an average proviral copy number of 0.5–2 per cell in the population of transduced hepatocytes. Northern analysis and slot blots of total RNA isolated from transduced cells showed levels of human OTC mRNA to be equivalent to that present in normal human liver. Enzymatic assays demonstrated that a partial biochemical correction of the defect was achieved. After retroviral transduction, the hepatocytes were trypsinized and replated for long-term culture. Viability after replating exceeded 90%, indicating that the transduced cells might be useful for transplantation. The successful in vitro correction of OTC deficiency by this vector suggests that it will also be useful in somatic gene therapy experiments. Ornithine transcarbamylase (OTC) deficiency is the most common of the urea cycle disorders in humans. Two mouse models for OTC deficiency exist, and Grompe et al. document transfer and expression of human OTC in cultured primary hepatocytes from these mice. Since liver is the ideal target for gene replacement therapy in this disorder, due to the presence of other urea cycle enzymes, these experiments represent a first step in the development of gene therapy for OTC deficiency.

Ornithine transcarbamylase deficiency

Ornithine transcarbamylase

Transduction (biophysics)

Ornithine Carbamoyltransferase

Trypsinization

10.1089/hum.1992.3.1-35

Cite

Citations (57)

Functional coupling of transcription factor HiNF-P and histone H4 gene expression during pre- and post-natal mouse development

Gene (2011)

Lijun Liu Ronglin Xie Sadiq Hussain Jane B. Lian Jaime A. Rivera‐Pérez

10.1016/j.gene.2011.05.002

Cite

Citations (9)

Cooperativity of p19ARF, Mdm2, and p53 in murine tumorigenesis

Oncogene (2003)

Lynette M. Moore Sundaresan Venkatachalam Hannes Vogel Julie C. Watt Chao-Ling Wu

Cooperativity

10.1038/sj.onc.1206985

Cite

Citations (48)

Supplementary Figure 5 from Smurf2 Regulates the Senescence Response and Suppresses Tumorigenesis in Mice

Charusheila Ramkumar Yahui Kong Hang Cui Suyang Hao Stephen N. Jones

<p>PDF file - 131K, Hematoxylin & Eosin staining of paraffin-embedded sections of kidney and liver with lymphomas in Smurf2T/T (T/T) and Smurf2+/T (+/T) mice. Scale bar: 100 mu</p>

10.1158/0008-5472.22393299

Cite

Citations (0)

ATM Phosphorylation of Mdm2 Ser394 Regulates the Amplitude and Duration of the DNA Damage Response in Mice

Cancer Cell (2012)

Hugh Gannon Bruce A. Woda Stephen N. Jones

Dephosphorylation

10.1016/j.ccr.2012.04.011

Cite

Citations (93)

Myogenic MicroRNA Expression Requires ATP-Dependent Chromatin Remodeling Enzyme Function

Molecular and Cellular Biology (2010)

Chandrashekara Mallappa Brian T. Nasipak Letitiah Etheridge Elliot J. Androphy Stephen N. Jones

Knockdown of the Brg1 ATPase subunit of SWI/SNF chromatin remodeling enzymes in developing zebrafish caused stunted tail formation and altered sarcomeric actin organization, which phenocopies the loss of the microRNA processing enzyme Dicer, or the knockdown of myogenic microRNAs.Furthermore, myogenic microRNA expression and differentiation was blocked in Brg1 conditional myoblasts differentiated ex vivo.The binding of Brg1 upstream of myogenic microRNA sequences correlated with MyoD binding and accessible chromatin structure in satellite cells and myofibers, and it was required for chromatin accessibility and microRNA expression in a tissue culture model for myogenesis.The results implicate ATP-dependent chromatin remodelers in myogenic microRNA gene regulation.

Dicer

SWI/SNF

MyoD Protein

10.1128/mcb.00214-10

Cite

Citations (32)

Rlim -Dependent and -Independent Pathways for X Chromosome Inactivation in Female ESCs

Cell Reports (2017)

Feng Wang Kurtis N. McCannell Ana Bošković Xiaochun Zhu Jongdae Shin

During female mouse embryogenesis, two forms of X chromosome inactivation (XCI) ensure dosage compensation from sex chromosomes. Beginning at the four-cell stage, imprinted XCI (iXCI) exclusively silences the paternal X (Xp), and this pattern is maintained in extraembryonic cell types. Epiblast cells, which give rise to the embryo proper, reactivate the Xp (XCR) and undergo a random form of XCI (rXCI) around implantation. Both iXCI and rXCI depend on the long non-coding RNA Xist. The ubiquitin ligase RLIM is required for iXCI in vivo and occupies a central role in current models of rXCI. Here, we demonstrate the existence of Rlim-dependent and Rlim-independent pathways for rXCI in differentiating female ESCs. Upon uncoupling these pathways, we find more efficient Rlim-independent XCI in ESCs cultured under physiological oxygen conditions. Our results revise current models of rXCI and suggest that caution must be taken when comparing XCI studies in ESCs and mice.

Epiblast

XIST

Dosage compensation

10.1016/j.celrep.2017.12.004

Cite

Citations (24)