Objective: Analyze expression patterns of genes located at linkage region of SPOAN syndrome (11q12-13), in order to identify genes differentially expressed in samples of SPOAN individuals compared to healthy controls.
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Specimen part
View SamplesThe molecular mechanism regulating phasic corticotropin-releasing hormone (CRH) release from parvocellular neurons (PVN) remains poorly understood. Here, we find a cohort of parvocellular cells interspersed with magnocellular PVN neurons expressing secretagogin. Single-cell transcriptome analysis combined with protein interactome profiling identifies secretagogin neurons as a distinct CRH-releasing neuron population reliant on secretagogin’s Ca2+ sensor properties and protein interactions with the vesicular traffic and exocytosis release machineries to liberate this key hypothalamic releasing hormone. Overall design: single cells from the PVN region juvenile (21-28 days) mice were dissected and subject to whole transcriptome analysis
A secretagogin locus of the mammalian hypothalamus controls stress hormone release.
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