mProX™ Human MC2R Stable Cell Line

Duan Y, et al. "Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal ." Journal of medical genetics, 2023.
Primary adrenal insufficiency (PAI) is a rare and life-threatening condition that requires a thorough understanding of its numerous potential causes for proper diagnosis. The genetic makeup and manifestations of PAI were retrospectively studied in a group of 111 patients with non-21OHD, divided into four groups according to underlying pathogenesis. Mutations in several genes were identified, with STAR and NR0B1 being the most prevalent. Common clinical presentations included hyperpigmentation, dehydration, vomiting, and abnormal external genitalia. It was found that age of onset and clinical characteristics differed based on the specific cause of PAI. A flowchart was developed to aid in diagnosing PAI using specific clinical features and molecular tests, leading to accurate diagnosis in 84.8% of patients before next-generation DNA sequencing.
Pubmed: 37586839   DOI: 10.1136/jmg-2022-108952

Shaughnessy CA, et al. "Functional characterization of melanocortin 2 receptor (Mc2r) from a lobe-finned ." General and comparative endocrinology, 2023.
Recent studies by researchers from our group have shed light on the function of melanocortin 2 receptors (Mc2r) in basal families of actinopterygians. These studies have revealed that even in the most primitive ray-finned fishes, Mc2r is dependent on the presence of Mrap1 and has a preference for adrenocorticotrophic hormone (ACTH). However, no studies have been conducted on the Mc2r function in basal sarcopterygians, specifically lobe-finned fishes such as coelacanths and lungfishes. To address this gap, the team has conducted the first molecular and functional characterization of an Mc2r from a lobe-finned fish, the West African lungfish (Protopterus annectens). Through experiments with mammalian and zebrafish cell lines, it was found that the lungfish Mc2r requires co-expression with the lungfish Mrap1 and has a strong preference for ACTH over other related hormones, such as alpha-melanocyte stimulating hormone (α-MSH). This preference was confirmed by multiple-alanine substitutions targeting specific motifs within the Mc2r protein. These findings indicate that the function of Mc2r differs significantly between bony vertebrates and cartilaginous fishes, with the latter exhibiting a unique and rapid evolution of Mc2r function. These conclusions are further supported by a molecular clock analysis, which shows a high rate of sequence divergence in the Mc2r of different vertebrate groups. While these findings provide important insights into the molecular evolution of Mc2r, further research is needed to fully understand the mechanisms underlying Mrap1 dependence and ACTH selectivity.
Pubmed: 37562700   DOI: 10.1016/j.ygcen.2023.114356