Dataset Information

RGS10L phosphorylation site determination Top-Down

ABSTRACT: The phosphorylation sites of 4 recombinant RGS10L variants were determined using Top-Down study.

INSTRUMENT(S): Orbitrap Fusion Lumos

ORGANISM(S): Escherichia Coli Mus Musculus (mouse)

SUBMITTER: Motoshi Suzuki

LAB HEAD: Kirk M. Druey

PROVIDER: PXD023752 | Pride | 2021-11-03

REPOSITORIES: Pride

ACCESS DATA

Publications

Short stature and combined immunodeficiency associated with mutations in RGS10.

Chinn Ivan K IK Xie Zhihui Z Chan Eunice C EC Nagata Bianca M BM Koval Alexey A Chen Wei-Sheng WS Zhang Fan F Ganesan Sundar S Hong Diana N DN Suzuki Motoshi M Nardone Glenn G Moore Ian N IN Katanaev Vladimir L VL Balazs Andrea E AE Liu Chengyu C Lupski James R JR Orange Jordan S JS Druey Kirk M KM

Science signaling 20210727 693

We report the clinical and molecular phenotype of three siblings from one family, who presented with short stature and immunodeficiency and carried uncharacterized variants in <i>RGS10</i> (c.489_491del:p.E163del and c.G511T:p.A171S). This gene encodes regulator of G protein signaling 10 (RGS10), a member of a large family of GTPase-activating proteins (GAPs) that targets heterotrimeric G proteins to constrain the activity of G protein-coupled receptors, including receptors for chemoattractants. ...[more]

PMID: 34315806

Similar Datasets

Project description:In mammals, the capacity of the female germ cell, the oocyte, to develop into embryo is acquired throughout meiotic maturation. Immature oocyte cannot be fertilized while mature oocyte is apt to accept spermatozoa and to develop an embryo. In a follicle, the oocyte is surrounded by mural granulosa cells (GC) and is physically and metabolically coupled with specialized granulosa cumulus cells (CC) which play an important role in oocyte maturation and fertilization. Factors expressing in GC and CC during maturation may reflect the oocyte quality, i.e. its capacity to be fertilized and assure early embryo development. However, the modifications of the content and the amount of peptide/proteins in the oocyte and the surrounding CC during oocyte maturation are mostly unknown and so there is not an accurate way of evaluating/monitoring how different in vitro maturation (IVM) protocols being in use in assisted reproduction technologies, can affect the process. In this context, Intact Cell MALDI-TOF Mass Spectrometry (ICM-MS) was applied to bovine follicular cells (bovine single oocytes, cumulus cells and granulosa cells) in order to characterize proteomic changes that occur in the follicle during female gamete development. In order to characterize finely endogenous molecular species observed on ICM-MS profiles and to identify markers of interest with their post-translational modifications, we carried out top-down proteomic on the different follicular cells from oocyte, oocyte-cumulus complexes, cumulus cells and granulosa cells protein extracts. Prior to top-down MS using a dual linear ion trap Fourier Transform Mass Spectrometer LTQ Orbitrap Velos, depending on the amount of available biological material, we employed three analytic strategies as a direct infusion, a mono-dimensional liquid chromatography (µLC-1D-MS/MS) and an off-line multi-dimensional liquid chromatography combining four fractionations (based on reverse phase or gel filtration LC) to µLC-MS/MS. Here, we deposited our dataset from µLC-1D-MS/MS (analyses of oocytes, oocyte-cumulus complexes, cumulus cells and granulosa cells protein extracts) and MDLC-MS/MS (analyses of granulosa cells protein extract).

Dataset Information

RGS10L phosphorylation site determination Top-Down

Publications

Short stature and combined immunodeficiency associated with mutations in RGS10.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure