We recently described X-linked acrogigantism (X-LAG), a condition of early childhood-onset pituitary gigantism associated with microduplications of the GPR101 receptor. The expression of GPR101 in hyperplastic pituitary regions and tumors in X-LAG patients, and GPR101’s normally transient pituitary expression during fetal development, suggest a role in the regulation of growth. Nevertheless, little is still known about GPR101’s physiological functions, especially during development. By using zebrafish models, we investigated the role of gpr101 during embryonic development and somatic growth. Transient ectopic gpr101 expression perturbed the embryonic body plan but did not affect growth. Loss of gpr101 led to a significant reduction in body size that was even more pronounced in the absence of maternal transcripts, as well as subfertility. These changes were accompanied by gastrulation and hypothalamic defects. In conclusion, both gpr101 loss- and gain-of-function affect, in different ways, fertility, embryonic patterning, growth and brain development.

我们最近描述了与 GPR101 受体微复制相关的儿童早期发病的垂体巨人症 (X-linked acrogigantism, X-LAG)。GPR101在 X-LAG 患者的垂体增生区域和肿瘤中的表达，以及 GPR101 在胎儿发育过程中正常短暂的垂体表达，表明在生长调节中起作用。然而，对于 GPR101 的生理功能仍然知之甚少，尤其是在发育过程中。通过使用斑马鱼模型，我们研究了gpr101在胚胎发育和体细胞生长过程中的作用。瞬时异位gpr101表达扰乱了胚胎的身体计划，但不影响生长。gpr101丢失导致体型显着减小，在没有母体转录本以及生育力低下的情况下更为明显。这些变化伴随着原肠胚形成和下丘脑缺陷。总之，gpr101功能的丧失和获得都会以不同的方式影响生育能力、胚胎模式、生长和大脑发育。