Random monoallelic expression: regulating gene expression one allele at a time

MA Eckersley-Maslin, DL Spector - Trends in Genetics, 2014 - cell.com
Monoallelic gene expression is a remarkable process in which transcription occurs from only
one of two homologous alleles in a diploid cell. Interestingly, between 0.5% and 15% of …

Molecular defects in thyroid dysgenesis

C Mio, G Grani, C Durante, G Damante - Clinical genetics, 2020 - Wiley Online Library
Congenital hypothyroidism (CH) is a neonatal endocrine disorder that might occur as itself
or be associated to congenital extra‐thyroidal defects. About 85% of affected subjects …

Spatial organization of transcribed eukaryotic genes

S Leidescher, J Ribisel, S Ullrich, Y Feodorova… - Nature cell …, 2022 - nature.com
Despite the well-established role of nuclear organization in the regulation of gene
expression, little is known about the reverse: how transcription shapes the spatial …

Genes with monoallelic expression contribute disproportionately to genetic diversity in humans

V Savova, S Chun, M Sohail, RB McCole, R Witwicki… - Nature …, 2016 - nature.com
An unexpectedly large number of human autosomal genes are subject to monoallelic
expression (MAE). Our analysis of 4,227 such genes uncovers surprisingly high genetic …

[HTML][HTML] Epigenetic control of chromosome-associated lncRNA genes essential for replication and stability

MB Heskett, AE Vouzas, LG Smith, PA Yates… - Nature …, 2022 - nature.com
ASARs are long noncoding RNA genes that control replication timing of entire human
chromosomes in cis. The three known ASAR genes are located on human chromosomes 6 …

[HTML][HTML] Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity

ZS Liang, I Cimino, B Yalcin, N Raghupathy… - PLoS …, 2020 - journals.plos.org
Some imprinted genes exhibit parental origin specific expression bias rather than being
transcribed exclusively from one copy. The physiological relevance of this remains poorly …

The 2016 database issue of Nucleic Acids Research and an updated molecular biology database collection

DJ Rigden, XM Fernández-Suárez… - Nucleic acids …, 2016 - academic.oup.com
Abstract The 2016 Database Issue of Nucleic Acids Research starts with overviews of the
resources provided by three major bioinformatics centers, the US National Center for …

Allelic imbalance is a prevalent and tissue-specific feature of the mouse transcriptome

SF Pinter, D Colognori, BJ Beliveau, RI Sadreyev… - Genetics, 2015 - academic.oup.com
In mammals, several classes of monoallelic genes have been identified, including those
subject to X-chromosome inactivation (XCI), genomic imprinting, and random monoallelic …

[HTML][HTML] Thyroid cancer harboring PTEN and TP53 mutations: A peculiar molecular and clinical case report

C Colombo, G Pogliaghi, D Tosi, M Muzza… - Frontiers in …, 2022 - frontiersin.org
To date, the molecular mechanisms that underline aggressiveness and resistance to
tyrosine kinase inhibitors in some thyroid carcinomas (TCs) are not known yet. We report the …

Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant

P Ginart, JM Kalish, CL Jiang, CY Alice… - Genes & …, 2016 - genesdev.cshlp.org
Imprinting is a classic mammalian epigenetic phenomenon that results in expression from a
single parental allele. Imprinting defects can lead to inappropriate expression from the …