作者
Emily L Germain-Lee, Chang-Lin Ding, Zhichao Deng, Janet L Crane, Motoyasu Saji, Matthew D Ringel, Michael A Levine
发表日期
2002/8/9
期刊
Biochemical and biophysical research communications
卷号
296
期号
1
页码范围
67-72
出版商
Academic Press
简介
Albright hereditary osteodystrophy (AHO) is characterized by multiple somatic defects secondary to mutations in the GNAS1 gene. AHO patients with mutations on maternally inherited alleles are resistant to multiple hormones (e.g., PTH, TSH), a variant termed pseudohypoparathyroidism (PHP) type 1a, due to presumed tissue-specific paternal imprinting of the α chain of Gs as demonstrated in murine renal proximal tubule and fat cells. Studies in human tissues thus far revealed imprinting only in pituitary. Because mild hypothyroidism due to TSH resistance occurs in most PHP type 1a patients, we investigated whether Gαs is imprinted in thyroid. Examination of eight normal thyroids demonstrated significantly greater expression from the maternal GNAS1 allele, with paternal Gαs transcripts accounting for only 25.9–40.4%. Expression of NESP55, XLαs, and 1A was uniallelic. We conclude that Gαs is incompletely …
引用总数
20022003200420052006200720082009201020112012201320142015201620172018201920202021202220232024110157109123131112975283125532
学术搜索中的文章
EL Germain-Lee, CL Ding, Z Deng, JL Crane, M Saji… - Biochemical and biophysical research communications, 2002