Section on Genetics & Endocrinology (SEGEN) Intramural Research Program (IRP), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), Bethesda, Maryland, USA.
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.
Endocr Relat Cancer. 2020 Aug;27(8):T87-T97. doi: 10.1530/ERC-20-0025.
We recently described X-linked acrogigantism (X-LAG) in sporadic cases of infantile gigantism and a few familial cases of pituitary gigantism in the context of the disorder known as familial isolated pituitary adenomas. X-LAG cases with early onset gigantism (in infants or toddlers) shared copy number gains (CNG) of the distal long arm of chromosome X (Xq26.3). In all patients described to date with Xq26.3 CNG and acro-gigantism, the only coding gene sequence shared by all chromosomal defects was that of GPR101. GPR101 is a class A, rhodopsin-like orphan guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) with no known endogenous ligand. We review what is known about GPR101, specifically its expression profile in human and animal models, the evidence supporting causation of X-LAG and possibly other roles, including its function in growth, puberty and appetite regulation, as well as efforts to identify putative ligands.
我们最近在家族性孤立性垂体腺瘤相关疾病背景下描述了散发性婴儿期巨人症和少数家族性垂体性巨人症中的 X 连锁肢端巨大症（X-LAG）。具有早发性巨人症（婴儿或学步儿）的 X-LAG 病例共享 X 染色体长臂远端（Xq26.3）的拷贝数增益（CNG）。在迄今为止描述的所有 Xq26.3 CNG 和肢端巨大症患者中，所有染色体缺陷共享的唯一编码基因序列是 GPR101。GPR101 是一种 A 类，视紫红质样孤儿鸟苷三磷酸结合蛋白（G 蛋白）-偶联受体（GPCR），没有已知的内源性配体。我们回顾了关于 GPR101 的已知信息，特别是其在人类和动物模型中的表达谱、支持 X-LAG 因果关系的证据以及可能的其他作用，包括其在生长、青春期和食欲调节中的功能，以及识别潜在配体的努力。
