An integrative transcriptomic atlas of organogenesis in human embryos

Gerrard, Dave T.; Berry, Andrew; Jennings, Rachel; Hanley, Karen Piper; Bobola, Nicoletta; Hanley, Neil A.

doi:10.7554/elife.15657

Cited by 64 publications

(93 citation statements)

References 28 publications

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“…In RNA sequencing data generated by Gerrard et al 23 in embryos of Carnegie stages 18 and 22 (7 and 8 weeks; i.e., around the time of sex determination), ESR2 expression could be observed in testicular tissues. In array expression data generated by del Valle et al 24 in a genomic atlas of human adrenal and gonadal development, early expression of ESR2 could be confirmed.…”

Section: Expression Studies In Human Embryosmentioning

confidence: 97%

“…ESR2 expression analysis in human embryonic tissue Assessment of human embryonic expression data sets ESR2 expression in the testis was assessed in RNA sequencing data generated by Gerrard et al 23 in human embryos of Carnegie stages 18 and 22 and in array expression data generated by del Valle et al 24 in embryonic gonadal and adrenal tissues.…”

Section: Structural Analysis Of the Estrogen Receptor-β (Er-β) Variantsmentioning

confidence: 99%

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Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Baetens

Güran

Mendonça

et al. 2018

Genetics in Medicine

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Purpose: Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.Methods: Homozygosity mapping and whole-exome sequencing revealed an ESR2 variant in an individual with syndromic 46,XY DSD. Additional cases with 46,XY DSD underwent whole-exome sequencing and targeted next-generation sequencing of ESR2. Functional characterization of the identified variants included luciferase assays and protein structure analysis. Gonadal ESR2 expression was assessed in human embryonic data sets and immunostaining of estrogen receptor-β (ER-β) was performed in an 8-week-old human male embryo.

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Section: Expression Studies In Human Embryosmentioning

confidence: 97%

Section: Structural Analysis Of the Estrogen Receptor-β (Er-β) Variantsmentioning

confidence: 99%

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Baetens

Güran

Mendonça

et al. 2018

Genetics in Medicine

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“…More recently, comparative RNA-seq between human foetal organs at ∼6-8 pcw was used to generate organ-specific, including lung-specific, transcriptional signatures (Gerrard et al, 2016). Cell type-specific transcriptome analysis has also been performed on microdissected branching epithelial tip cells from human pseudoglandular stage lungs by RNA-seq (Miller et al, 2017; Nikolić et al, 2017).…”

Section: Studies Of Human Lung Development Using Human Lung Tissuementioning

confidence: 99%

Human lung development: recent progress and new challenges

2018

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Recent studies have revealed biologically significant differences between human and mouse lung development, and have reported new in vitro systems that allow experimental manipulation of human lung models. At the same time, emerging clinical data suggest that the origins of some adult lung diseases are found in embryonic development and childhood. The convergence of these research themes has fuelled a resurgence of interest in human lung developmental biology. In this Review, we discuss our current understanding of human lung development, which has been profoundly influenced by studies in mice and, more recently, by experiments using in vitro human lung developmental models and RNA sequencing of human foetal lung tissue. Together, these approaches are helping to shed light on the mechanisms underlying human lung development and disease, and may help pave the way for new therapies.

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“…RNA was prepared 7 and RNAseq undertaken as previously described 41 . RNA quality checks, creation of a cDNA library and DNA fragmentation was performed by the University of Manchester Genomics Core Facility.…”

Section: Rna Sequencingmentioning

confidence: 99%

SOX9 is required for kidney fibrosis and regulates NAV3 to control renal myofibroblast function in mice and humans

Raza

Jokl

Pritchett

et al. 2019

Preprint

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Renal fibrosis is a common endpoint for many chronic kidney diseases. Extracellular matrix (ECM) from myofibroblasts causes progressive scarring and organ failure. The mechanisms underlying fibrogenesis and how it is sustained are incompletely understood. Here, we show that the transcription factor, Sex determining region Y-box 9 (SOX9), is required for kidney fibrosis. From genome-wide analysis we identify Neuron navigator 3 (NAV3) downstream of SOX9. NAV3 was upregulated in kidney disease in patients and following renal injury in mice colocalised with SOX9. By establishing an in vitro model of renal pericyte transition to myofibroblast we demonstrated that NAV3 is required for multiple aspects of fibrogenesis including actin polymerization linked to cell migration and sustaining SOX9 and active YAP1 levels. In summary, our work discovers novel SOX9-NAV3-YAP1/SOX9 circuitry as a new mechanism to explain the progression of kidney fibrosis and points to NAV3 as a novel target for pharmacological intervention.

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An integrative transcriptomic atlas of organogenesis in human embryos

Cited by 64 publications

References 28 publications

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Human lung development: recent progress and new challenges

SOX9 is required for kidney fibrosis and regulates NAV3 to control renal myofibroblast function in mice and humans

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