ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0021.3-9 | Congenital Hypothyroidism | ESPEYB21

3.9. STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

Grasberger Helmut , Dumitrescu Alexandra M , Liao Xiao-Hui , Swanson Elliott G , Weiss Roy E , Srichomkwun Panudda , Pappa Theodora , Chen Junfeng , Yoshimura Takashi , Hoffmann Phillip , Franca Monica Malheiros , Tagett Rebecca , Onigata Kazumichi , Costagliola Sabine , Ranchalis Jane , Vollger Mitchell R , Stergachis Andrew B , Chong Jessica X , Bamshad Michael J , Smits Guillaume , Vassart Gilbert , Refetoff Samuel

Brief Summary: This study investigated congenital hypothyroidism (CH) due to dominantly inherited resistance to TSH (RTSH) in 12 unrelated families. It reveals that mutations in a non-coding (TTTG) short tandem repeat (STR) on chromosome 15q cause this condition by activating a thyroid-specific enhancer cluster. Functional studies showed that activation of this enhancer cluster leads to upregulation of the bicistronic MIR7-2/MIR1179 locus, resulting in overexpression of its mi...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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