Furth, Noa Shema, Efrat
Published in
Current opinion in genetics & development
Genome regulation is governed by the dynamics of chromatin modifications. The extensive and diverse array of DNA and histone modifications allow multiple elements to act combinatorically and direct tissue-specific and cell-specific outcomes. Yet, our ability to elucidate these complex combinations and link them to normal genome regulation, as well ...
Belan, Ondrej Anand, Roopesh Boulton, Simon J
Published in
Current opinion in genetics & development
Homologous recombination (HR) plays a critical role in largely error-free repair of mitotic and meiotic DNA double-strand breaks (DSBs). DSBs are one of the most deleterious DNA lesions, which are repaired by non-homologous end joining (NHEJ), homologous recombination (HR) or, if compromised, micro-homology mediated end joining (MMEJ). If left unre...
Chawner, Samuel Jra Watson, Cameron J Owen, Michael J
Published in
Current opinion in genetics & development
Several copy number variants (CNVs) have been identified to confer high risk for a range of neuropsychiatric conditions. Because of advances in genetic testing within clinical settings, patients are increasingly receiving diagnoses of copy number variant genomic disorders. However, clinical guidelines surrounding assessment and management are limit...
Rees, Elliott Kirov, George
Published in
Current opinion in genetics & development
Copy number variants (CNVs) at specific loci have been identified as important risk factors for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder, intellectual disability (ID) and depression. These CNVs are individually rare (
Di Stefano, Marco Paulsen, Jonas Jost, Daniel Marti-Renom, Marc A
Published in
Current opinion in genetics & development
The intrinsic dynamic nature of chromosomes is emerging as a fundamental component in regulating DNA transcription, replication, and damage-repair among other nuclear functions. With this increased awareness, reinforced over the last ten years, many new experimental techniques, mainly based on microscopy and chromosome conformation capture, have be...
Oudelaar, A Marieke Beagrie, Robert A Kassouf, Mira T Higgs, Douglas R
Published in
Current opinion in genetics & development
The mammalian globin gene clusters provide a paradigm for studying the relationship between genome structure and function. As blood stem cells undergo lineage specification and differentiation to form red blood cells, the chromatin structure and expression of the α-globin cluster change. The gradual activation of the α-globin genes in well-defined ...
Robles-Espinoza, Carla Daniela Mohammadi, Pejman Bonilla, Ximena Gutierrez-Arcelus, Maria
Published in
Current Opinion in Genetics & Development
Allele-specific gene expression can influence disease traits. Non-coding germline genetic variants that alter regulatory elements can cause allele-specific gene expression and contribute to cancer susceptibility. In tumors, both somatic copy number alterations and somatic single nucleotide variants have been shown to lead to allele-specific express...
Lannagan, Tamsin RM Jackstadt, Rene Leedham, Simon J Sansom, Owen J
Published in
Current Opinion in Genetics & Development
Modelling human colon cancer has long been the ambition of researchers and oncologists with the aim to better replicate disease progression and treatment response. Advances in our understanding of genetics, stem cell biology, tumour microenvironment and immunology have prepared the groundwork for recent major advances. In the last two years the fie...
Almeida, Mafalda Bowness, Joseph S Brockdorff, Neil
Published in
Current opinion in genetics & development
Many intricate pathways contribute to the timely control of gene expression during development. Polycomb repressive complexes (PRC1 and PRC2) and long non-coding RNAs (lncRNAs) are players associated with gene repression in various developmental processes such as X chromosome inactivation (XCI) and genomic imprinting. Historically, lncRNAs were pro...
Shellard, Adam Mayor, Roberto
Published in
Current opinion in genetics & development
Neural crest cells are a multipotent embryonic stem cell population that migrate large distances to contribute a variety of tissues. The cranial neural crest, which contribute to tissues of the face and skull, undergo collective migration whose movement has been likened to cancer metastasis. Over the last few years, a variety of mechanisms for the ...
