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Role of Snord116 in pituitary growth hormone deficiency of Prader-Willi Syndrome

ABSTRACT: Prader-Willi Syndrome (PWS) is a complex genetic disorder resulting from the deficiency of several maternally imprinted genes, including SNORD116, in the 15q11-q13 region. Loss of Snord116 in mice recapitulates some of the most salient clinical features of PWS, including growth hormone (GH) deficiency and hypogonadism. This study explored the impact of Snord116 deficiency on early postnatal pituitary development and growth in Snord116 KO mice. Snord116 was found to be expressed in both anterior and posterior pituitary. Pituitary transcriptomes of Snord116 KO and wild-type (WT) mice at two developmental stages, postnatal day 0 (P0) and 4 weeks of age, were interrogated and related to ex vivo analyses of GH secretion in the pituitaries of 5-week-old mice. Significant differences in pituitary transcriptomes were detected between Snord116 KO and WT mice at 4 weeks of age but not at P0. The differentially expressed genes and affected molecular pathways play important roles in regulating embryonic and postnatal pituitary development. Our results suggested that PWS GH deficiency was mainly due to pituitary hypoplasia and decreased GH production but not to reduced GH secretory function per se, implicating Snord116 in the specific molecular/cellular pathways that account for impaired postnatal pituitary development and GH deficiency in PWS.

ORGANISM(S): Mus musculus

PROVIDER: GSE333730 | GEO | 2026/07/30

REPOSITORIES: GEO

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