Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential

Rawls, Amy S.; Gregory, Alyssa D.; Woloszynek, Jill; Liu, Fulu; Link, Daniel C.

doi:10.1182/blood-2006-03-007112

Cited by 51 publications

(57 citation statements)

References 39 publications

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“…Lentiviral vector-mediated RNA interference technology combines the advantages of a lentiviral vector with those of an RNA interference sequence that is specifically targeted to inhibit gene expression. These tools are effective in a variety of mammalian cells and numerous disease models (Nishitsuji et al, 2004;Gonzalez-Alegre, et al, 2005;Raoul et al, 2005;Rawls et al, 2007). Since Stewart et al (2003) first reported the use of this technology, it has been used widely to study disease pathogenesis.…”

Section: Discussionmentioning

confidence: 99%

Effects of NELL2 on the regulation of GnRH expression and puberty in female rats

Zhou

2014

Genet. Mol. Res.

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ABSTRACT. Neural tissue-specific epidermal growth factor-like repeat domain-containing protein (NELL2) was previously found to play an important role in nerve growth, neural differentiation, neural elasticity, synaptic transport, and vesicle release. In this study, we examined the effect of NELL2 on gonadotropin-releasing hormone (GnRH) neurons and the initiation of puberty in female rats. We studied changes in NELL2 mRNA and protein expression at different stages of sexual development (postnatal days 30, 35, and 45) in female rats to determine the impact of NELL2 on GnRH mRNA expression. We also investigated the influence on the vulva-opening age by inhibiting NELL2 mRNA expression through lentiviral vector-mediated RNA interference. The intraventricular administration of an NELL2-interfering virus reduced NELL2 and GnRH expression at multiple stages of sexual development and delayed the age of vulva-opening in female rats. These results demonstrate that lentiviral-mediated RNA interference technology can be used for targeted regulation of sexual Effect of NELL2 on GnRH and puberty in female rats development in vivo. In addition, we found that NELL2 regulated the initiation of puberty in female rats.

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Section: Discussionmentioning

confidence: 99%

Effects of NELL2 on the regulation of GnRH expression and puberty in female rats

Zhou

2014

Genet. Mol. Res.

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“…These syndromes are heterogeneous in their clinical presentations: for example, patients with ShwachmanDiamond syndrome (SDS) with confirmed mutations in the SBDS gene (Chr7q11) may not have all the characteristic features of neutropenia, skeletal defects and pancreatic insufficiency [4]. There is emerging evidence that loss of Shwachman-Bodian-Diamond syndrome (SBDS) protein affects haematopoeisis and numbers of circulating B lymphocytes [5]. Craniofacial malformation syndromes such as Treacher-Collins syndrome, caused by haploinsufficiency of the treacle protein, also affect the cells of the immune system [6], and a broader immunological defect has been described in the congenital anaemia of Diamond-Blackfan syndrome (Diamond-Blackfan anaemia: DBA) [7].…”

Section: Introductionmentioning

confidence: 99%

Do ribosomopathies explain some cases of common variable immunodeficiency?

Khan

Pereira

Darbyshire

et al. 2010

Clinical and Experimental Immunology

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SummaryThe considerable clinical heterogeneity of patients with common variable immunodeficiency disorders (CVID) shares some similarity with bonemarrow failure disorders such as Diamond-Blackfan anaemia (DBA) and Shwachman-Diamond syndrome (SDS), now recognized as defects in ribosome biogenesis or ribosomopathies. The recognition of a patient with DBA who subsequently developed CVID lends support to our previous finding of a heterozygous mutation in the SBDS gene of SBDS in another CVID patient, suggesting that ribosome biogenesis defects are responsible for a subset of CVID. Genetic defects in the ribosomal translational machinery responsible for various bone marrow failure syndromes are recognized readily when they manifest in children, but diagnosing these in adults presenting with complex phenotypes and hypogammaglobulinaemia can be a challenge. In this perspective paper, we discuss our clinical experience in CVID patients with ribosomopathies, and review the immunological abnormalities in other conditions associated with ribosomal dysfunction. With genetic testing available for various bone marrow failure syndromes, our hypothesis that ribosomal abnormalities may be present in patients with CVID could be proved in future studies by testing for mutations in specific ribosomal genes. New knowledge might then be translated into novel therapeutic strategies for patients in this group of immunodeficiency disorders.

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“…[67][68][69] iPSCs derived from SDS patients manifest deficits in exocrine pancreatic and hematopoietic differentiation and enhanced apoptosis. 70 Deletion of murine Sbds resulted in early embryonic lethality.…”

Section: Shwachman-diamond Syndrome: Molecular Pathophysiologymentioning

confidence: 99%

Marrow failure: a window into ribosome biology

Ruggero

Shimamura

2014

Blood

101

107

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Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes characterized by marrow failure, congenital anomalies, and cancer predisposition. Genetic and molecular studies have uncovered distinct abnormalities in ribosome biogenesis underlying each of these 3 disorders. How defects in ribosomes, the essential organelles required for protein biosynthesis in all cells, cause tissue-specific abnormalities in human disease remains a question of fundamental scientific and medical importance. Here we review the overlapping and distinct clinical features of these 3 syndromes and discuss current knowledge regarding the ribosomal pathways disrupted in each of these disorders. We also explore the increasing complexity of ribosome biology and how this informs our understanding of developmental biology and human disease.

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Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential

Abstract: Shwachman-Diamond syndrome (SDS) is

Cited by 51 publications

References 39 publications

Effects of NELL2 on the regulation of GnRH expression and puberty in female rats

Effects of NELL2 on the regulation of GnRH expression and puberty in female rats

Do ribosomopathies explain some cases of common variable immunodeficiency?

Marrow failure: a window into ribosome biology

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