Human imprinting disorders: principles, practice, problems and progress

DJG Mackay, IK Temple - European journal of medical genetics, 2017 - Elsevier
Epigenetic regulation orchestrates gene expression with exquisite precision, over a huge
dynamic range and across developmental space and time, permitting genomically …

Identifying regulators of parental imprinting by CRISPR/Cas9 screening in haploid human embryonic stem cells

S Bar, D Vershkov, G Keshet, E Lezmi, N Meller… - Nature …, 2021 - nature.com
In mammals, imprinted genes are regulated by differentially methylated regions (DMRs) that
are inherited from germ cells, leading to monoallelic expression in accordance with parent …

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

S Tomizawa, H Sasaki - Journal of human genetics, 2012 - nature.com
Genomic imprinting is an epigenetic gene-marking phenomenon that occurs in the germline,
whereby genes are expressed from only one of the two parental copies in embryos and …

Nonallelic transvection of multiple imprinted loci is organized by the H19 imprinting control region during germline development

KS Sandhu, C Shi, M Sjölinder, Z Zhao… - Genes & …, 2009 - genesdev.cshlp.org
Recent observations highlight that the mammalian genome extensively communicates with
itself via long-range chromatin interactions. The causal link between such chromatin cross …

Russell–silver syndrome

T Eggermann - American Journal of Medical Genetics Part C …, 2010 - Wiley Online Library
Abstract In comparison to Prader–Willi or Angelman syndrome, Russell–Silver syndrome
(RSS) is a relatively “young” imprinting disorder. This congenital disease is characterized by …

The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility

DA Skaar, Y Li, AJ Bernal, C Hoyo, SK Murphy… - ILAR …, 2012 - academic.oup.com
Imprinted genes form a special subset of the genome, exhibiting monoallelic expression in a
parent-of-origin–dependent fashion. This monoallelic expression is controlled by parental …

Quantitative and multiplexed DNA methylation analysis using long-read single-molecule real-time bisulfite sequencing (SMRT-BS)

Y Yang, R Sebra, BS Pullman, W Qiao, I Peter… - BMC genomics, 2015 - Springer
Background DNA methylation has essential roles in transcriptional regulation, imprinting, X
chromosome inactivation and other cellular processes, and aberrant CpG methylation is …

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

J Bliek, M Alders, SM Maas, RJ Oostra… - European Journal of …, 2009 - nature.com
Abstract The Beckwith–Wiedemann syndrome (BWS) is a growth disorder for which an
increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions …

The GNAS Complex Locus and Human Diseases Associated with Loss-of-Function Mutations or Epimutations within This Imprinted Gene

S Turan, M Bastepe - Hormone Research in Paediatrics, 2013 - karger.com
GNAS is a complex imprinted locus leading to several different gene products that show
exclusive monoallelic expression. GNAS also encodes the α-subunit of the stimulatory G …

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

RL Poole, LE Docherty, A Al Sayegh… - American journal of …, 2013 - Wiley Online Library
Imprinting disorders are associated with mutations and epimutations affecting imprinted
genes, that is those whose expression is restricted by parent of origin. Their diagnosis is …