Developmental expression of <i>Smoc1</i> and <i>Smoc2</i> suggests potential roles in fetal gonad and reproductive tract differentiation

Pazin, Dorothy E.; Albrecht, Kenneth H.

doi:10.1002/dvdy.22124

Cited by 50 publications

(41 citation statements)

References 53 publications

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“…43,44 Recently, the expression and regulation of Smoc2 were investigated in gonad/mesonephros complexes. 45 Smoc2 expression is associated with Hedgehog signaling, which plays a role regulating branching morphogenesis 46,47 and is responsible for maintenance and proliferation of metanephric mesenchyme stem cells in the developing kidney. 48 Several mouse models exhibit various degrees of renal agenesis, including the Danforth, 49 urogenital syndrome, 50 limb deformity, 51 and FUBI (failure of ureteric bud invasion) mouse, 52 and those induced by gene manipulation (e.g., knockout of Wt1, Gdnf, and Ret).…”

Section: Discussionmentioning

confidence: 99%

Nephron Deficiency and Predisposition to Renal Injury in a Novel One-Kidney Genetic Model

Wang¹,

Johnson²,

White³

et al. 2015

Journal of the American Society of Nephrology

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Some studies have reported up to 40% of patients born with a single kidney develop hypertension, proteinuria, and in some cases renal failure. The increased susceptibility to renal injury may be due, in part, to reduced nephron numbers. Notably, children who undergo nephrectomy or adults who serve as kidney donors exhibit little difference in renal function compared with persons who have two kidneys. However, the difference in risk between being born with a single kidney versus being born with two kidneys and then undergoing nephrectomy are unclear. Animal models used previously to investigate this question are not ideal because they require invasive methods to model congenital solitary kidney. In this study, we describe a new genetic animal model, the heterogeneous stock-derived model of unilateral renal agenesis (HSRA) rat, which demonstrates 50%-75% spontaneous incidence of a single kidney. The HSRA model is characterized by reduced nephron number (more than would be expected by loss of one kidney), early kidney/glomerular hypertrophy, and progressive renal injury, which culminates in reduced renal function. Long-term studies of temporal relationships among BP, renal hemodynamics, and renal function demonstrate that spontaneous single-kidney HSRA rats are more likely than uninephrectomized normal littermates to exhibit renal impairment because of the combination of reduced nephron numbers and prolonged exposure to renal compensatory mechanisms (i.e., hyperfiltration). Future studies with this novel animal model may provide additional insight into the genetic contributions to kidney development and agenesis and the factors influencing susceptibility to renal injury in individuals with congenital solitary kidney.

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Section: Discussionmentioning

confidence: 99%

Nephron Deficiency and Predisposition to Renal Injury in a Novel One-Kidney Genetic Model

Wang¹,

Johnson²,

White³

et al. 2015

Journal of the American Society of Nephrology

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“…SMOC2 was assumed to be expressed in the testis based on evidence in other species [35, 36] (http://www.proteinatlas.org/). gDNA and mRNA were extracted from testes snap frozen and stored at −80°C in RNAlater.…”

Section: Methodsmentioning

confidence: 99%

Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2

et al. 2017

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SummaryIn morphological terms, “form” is used to describe an object’s shape and size. In dogs, facial form is stunningly diverse. Facial retrusion, the proximodistal shortening of the snout and widening of the hard palate is common to brachycephalic dogs and is a welfare concern, as the incidence of respiratory distress and ocular trauma observed in this class of dogs is highly correlated with their skull form. Progress to identify the molecular underpinnings of facial retrusion is limited to association of a missense mutation in BMP3 among small brachycephalic dogs. Here, we used morphometrics of skull isosurfaces derived from 374 pedigree and mixed-breed dogs to dissect the genetics of skull form. Through deconvolution of facial forms, we identified quantitative trait loci that are responsible for canine facial shapes and sizes. Our novel insights include recognition that the FGF4 retrogene insertion, previously associated with appendicular chondrodysplasia, also reduces neurocranium size. Focusing on facial shape, we resolved a quantitative trait locus on canine chromosome 1 to a 188-kb critical interval that encompasses SMOC2. An intronic, transposable element within SMOC2 promotes the utilization of cryptic splice sites, causing its incorporation into transcripts, and drastically reduces SMOC2 gene expression in brachycephalic dogs. SMOC2 disruption affects the facial skeleton in a dose-dependent manner. The size effects of the associated SMOC2 haplotype are profound, accounting for 36% of facial length variation in the dogs we tested. Our data bring new focus to SMOC2 by highlighting its clinical implications in both human and veterinary medicine.

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“…SMOC-2 is widely expressed with the highest levels of SMOC-2 mRNA detected in heart, muscle, spleen, and ovary – a pattern that shares some similarities and some differences with that of SMOC-1 (Vannahme et al, 2003). Expression of both SMOC-1 and SMOC-2 were found during development of the fetal gonad and reproductive tract suggesting that these proteins might function to regulate differentiation of these tissues (Pazin and Albrecht, 2009). Maier et al (2008) also showed that SMOC-2 expression was more frequently found at non-basement membrane sites in comparison with the predominant basement membrane pattern of SMOC-1.…”

Section: Smoc-2mentioning

confidence: 99%

Diverse biological functions of the SPARC family of proteins

Bradshaw

2012

The International Journal of Biochemistry & Cell Biology

209

165

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The SPARC family of proteins represents a diverse group of proteins that modulate cell interaction with the extracellular milieu. The eight members of the SPARC protein family are modular in nature. Each shares a follistatin-like domain and an extracellular calcium binding E–F hand motif. In addition, each family member is secreted into the extracellular space. Some of the shared activities of this family include, regulation of extracellular matrix assembly and deposition, counter-adhesion, effects on extracellular protease activity, and modulation of growth factor/cytokine signaling pathways. Recently, several SPARC family members have been implicated in human disease pathogenesis. This review discusses recent advances in the understanding of the functional roles of the SPARC family of proteins in development and disease.

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Developmental expression of Smoc1 and Smoc2 suggests potential roles in fetal gonad and reproductive tract differentiation

Cited by 50 publications

References 53 publications

Nephron Deficiency and Predisposition to Renal Injury in a Novel One-Kidney Genetic Model

Nephron Deficiency and Predisposition to Renal Injury in a Novel One-Kidney Genetic Model

Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2

Diverse biological functions of the SPARC family of proteins

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