Allelic Imbalance by Genetic and Epigenetic Factors
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 31 May 2025 | Viewed by 7
Special Issue Editor
Interests: genetic basis of human disorders; principles of human inheritance; variant classification; genetic heterogeneity; allelic imbalance; allele specific expression
Special Issue Information
Dear Colleagues,
Allele specific expression (ASE) or allelic imbalance (AI) is the unequal expression of the alleles of the same gene in a single cell. Genetic factors that contribute to this phenomenon are cis-acting, trans-acting or distant-acting genetic variants in coding, intronic or regulatory sequences, which affect gene transcription and post-transcriptional processes. Εpigenetic differences can also result in allele specific expression via a process termed sequence-dependent allele-specific methylation or histone acetylation. The aforementioned causes of ΑΙ are different to the case of parent-of-origin-dependent ASE that occurs when the alleles are differentially expressed based on which parent contributed it regardless of the underlying sequence; and the mono-allelic expression of X-linked genes through the random X-chromosome inactivation in female cells. As a result, the knowledge of factors that contribute to ASE in known diploid expressed genes can shed light on the reasons for genetic variant misclassification among scientists for the same human disorder and the clinical value of variants of unknown significance (VUS). The introduction of next-generation sequencing (NGS) has rapidly increased the amount of available genomic data, but many times, their interpretation seems to be complicated. Especially, VUS often require multiple clinical visits and reanalysis, which can be time- and resource-consuming in order to find the genotype-phenotype correlation.
I am pleased to invite you to submit to this Special Issue articles on all types of research, from fundamental to translational and clinical research, to shed light on genetic and epigenetic factors that causes ASE. Also, case report manuscripts are welcome that present rare or common diseases with ASE among family members. This Special Issue may suggest that we should study the inheritance and classify genetic variants in a more stochastic way than the terms of “Dominant” and “Recessive” and their derivatives (Codominant, Incomplete Dominant) are applied in Mendelian/non-Mendelian inheritance, revolutionizing our diagnostic, prognostic, and therapeutic strategies in human-inherited diseases.
I look forward to receiving your contributions.
Dr. Anthoula L. Chatzikyriakidou
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- allele-specific expression
- allelic imblance
- genetic variant
- epialleles
- variant classification
- genetic heterogeneity
- incomplete penetrance
- variable expressivity
- mendelian/non-mendelian inheritance
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue polices can be found here.
