ISSN 1662-4009 (online)

ey0020.3-18 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.18. Periosteal stem cells control growth plate stem cells during postnatal skeletal growth

M Tsukasaki , N Komatsu , T Negishi-Koga , NC Huynh , R Muro , Y Ando , Y Seki , A Terashima , W Pluemsakunthai , T Nitta , T Nakamura , T Nakashima , S Ohba , H Akiyama , K Okamoto , R Baron , H Takayanagi

In Brief: The authors use cell tracing approaches in a PRMT5flox/Δ Ctsk-Cre strain to label periosteal stem cells (PSCs) and show that PSCs are not only essential for intramembranous bone formation but also for endochondral bone formation. The study identifies the role of PSC derived indian hedgehog (Ihh) in maintaining growth plate homeostasis and postnatal skeletal growth.Commentary: The skeleton harbors stem cells in three independent ...

ey0017.6-7 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.7. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

K Hamanaka , A Takata , Y Uchiyama , S Miyatake , N Miyake , S Mitsuhashi , K Iwama , A Fujita , E Imagawa , AN Alkanaq , E Koshimizu , Y Azuma , M Nakashima , T Mizuguchi , H Saitsu , Y Wada , S Minami , Y Katoh-Fukui , Y Masunaga , M Fukami , T Hasegawa , T Ogata , N Matsumoto

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...