The single gene theory of right shift

The 22q11.2 deletion: From diversity to a single gene theory

Genetics in Medicine ◽

10.1097/00125817-200101000-00002 ◽

2001 ◽

Vol 3 (1) ◽

pp. 2-5 ◽

Cited By ~ 21

Author(s):

Hendrik Paul De Decker ◽

John Bernard Lawrenson

Keyword(s):

Single Gene ◽

22Q11.2 Deletion ◽

Gene Theory

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Linking transcription, RNA polymerase II elongation and alternative splicing

Biochemical Journal ◽

10.1042/bcj20200475 ◽

2020 ◽

Vol 477 (16) ◽

pp. 3091-3104 ◽

Cited By ~ 1

Author(s):

Luciana E. Giono ◽

Alberto R. Kornblihtt

Keyword(s):

Gene Expression ◽

Alternative Splicing ◽

Rna Polymerase Ii ◽

Environmental Changes ◽

Transcription Elongation ◽

Single Gene ◽

Regulation Of Gene Expression ◽

Regulation Of Transcription ◽

Stepping Stones ◽

Eukaryotic Transcription

Gene expression is an intricately regulated process that is at the basis of cell differentiation, the maintenance of cell identity and the cellular responses to environmental changes. Alternative splicing, the process by which multiple functionally distinct transcripts are generated from a single gene, is one of the main mechanisms that contribute to expand the coding capacity of genomes and help explain the level of complexity achieved by higher organisms. Eukaryotic transcription is subject to multiple layers of regulation both intrinsic — such as promoter structure — and dynamic, allowing the cell to respond to internal and external signals. Similarly, alternative splicing choices are affected by all of these aspects, mainly through the regulation of transcription elongation, making it a regulatory knob on a par with the regulation of gene expression levels. This review aims to recapitulate some of the history and stepping-stones that led to the paradigms held today about transcription and splicing regulation, with major focus on transcription elongation and its effect on alternative splicing.

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Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders

Yearbook of Obstetrics Gynecology and Women s Health ◽

10.1016/s1090-798x(08)70132-2 ◽

2007 ◽

Vol 2007 ◽

pp. 183-184

Author(s):

L.P. Shulman

Keyword(s):

Clinical Outcome ◽

Preimplantation Genetic Diagnosis ◽

Single Gene ◽

Genetic Diagnosis ◽

Single Gene Disorders

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Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing

Endocrine Abstracts ◽

10.1530/endoabs.39.oc5.2 ◽

2015 ◽

Author(s):

Lucy Shapiro ◽

Martin Savage ◽

Lou Metherell ◽

Helen Storr

Keyword(s):

Short Stature ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Single Gene ◽

Genetic Characterisation ◽

Whole Exome

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An update on HLA alleles as pharmacogenetic markers for antiepileptic drug-induced cutaneous adverse reaction

Neuroscience Research Notes ◽

10.31117/neuroscirn.v2i2.29 ◽

2019 ◽

Vol 2 (2) ◽

pp. 1-17

Author(s):

Sue-Mian Then ◽

Azman Ali Raymond

Keyword(s):

Single Gene ◽

Hypersensitivity Syndrome ◽

Allelic Frequency ◽

Stevens Johnson Syndrome ◽

Case Control Studies ◽

Drug Induced ◽

Hla Alleles ◽

Exfoliative Dermatitis ◽

Johnson Syndrome ◽

Systemic Symptoms

Epilepsy is a common neurological disorder affecting approximately 50 million people worldwide. Antiepileptic drugs (AEDs) are commonly used to treat the disease depending, mainly on the type of seizure. However, the use of AEDs may also lead to cutaneous adverse drug reactions (cADR) such as toxic epidermal necrolysis (TEN), Stevens–Johnson syndrome (SJS), exfoliative dermatitis (ED) and drug‐induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms (DIHS/DRESS), which are unwanted comorbidities in epilepsy. It was first discovered that the HLA-B*15:02 allele was strongly associated with carbamazepine (CBZ)-induced SJS/TEN among Han Chinese and this led to the discovery of other HLA alleles and cytochrome P450 (CYP) genes that were significantly associated with various AED-induced cADRs across various populations. This mini review is an update on the latest findings of the involvement of various HLA alleles and CYP alleles in cADRs caused by CBZ, phenytoin (PHT), oxcarbazepine (OXC) and lamitrogine (LTG) in different case-control studies around the world. From our review, we found that CBZ- and PHT-induced cADRs were more commonly reported than the other AEDs. Therefore, there were more robust pharmacogenetics studies related to these AEDs. OXC- and LTG-induced cADRs were less commonly reported, and so more studies are needed to validate the reported association of the newer reported HLA alleles with these AEDs. It is also important to take into account the allelic frequency within a given population before drawing conclusions about the use of these alleles as genetic markers to prevent AED-induced cADR. Overall, the current body of research point to a combination of alleles as a better pharmacogenetic marker compared to the use of a single gene as a genetic marker for AED-induced cADR.

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