Duplications disrupt chromatin architecture and rewire <i>GPR101</i>-enhancer communication in X-linked acrogigantism
نویسندگان
چکیده
Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and rewiring GPR101 -enhancer interactions most likely causes upregulation expression in X-LAG-related pituitary tumors.
منابع مشابه
X-linked acrogigantism syndrome: clinical profile and therapeutic responses.
X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X...
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Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly.We studied 153 patients (58 females ...
متن کاملSomatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.
Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101 We studied XLAG syndrome patients (n= 18) to determine if somatic ...
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We have obtained sequence polymorphism data from 13 genes belonging to 5 gene families in Drosophila melanogaster where the K(a)/K(s) between copies is greater than 1. Twelve of these 13 loci are X-linked. In general, there is evidence of purifying selection in all families, as inferred both from levels of silent and replacement variation and insertion/deletion variation, suggesting that the lo...
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ژورنال
عنوان ژورنال: Yearbook of pediatric endocrinology
سال: 2022
ISSN: ['1662-3991', '1662-4009']
DOI: https://doi.org/10.1530/ey.19.1.11