scholarly journals Avoiding Extinction: Recent Advances in Understanding Mechanisms of Mitochondrial DNA Purifying Selection in the Germline

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Swathi P. Jeedigunta ◽  
Anastasia V. Minenkova ◽  
Jonathan M. Palozzi ◽  
Thomas R. Hurd
Keyword(s):  
Mitochondrial Dna ◽  
Recent Progress ◽  
Human Genetics ◽  
Purifying Selection ◽  
Annual Review ◽  
Publication Date ◽  
Deleterious Mutations ◽  
A Genome ◽  
Selection Mechanisms ◽  
Female Germline

Mitochondria are unusual organelles in that they contain their own genomes, which are kept apart from the rest of the DNA in the cell. While mitochondrial DNA (mtDNA) is essential for respiration and most multicellular life, maintaining a genome outside the nucleus brings with it a number of challenges. Chief among these is preserving mtDNA genomic integrity from one generation to the next. In this review, we discuss what is known about negative (purifying) selection mechanisms that prevent deleterious mutations from accumulating in mtDNA in the germline. Throughout, we focus on the female germline, as it is the tissue through which mtDNA is inherited in most organisms and, therefore, the tissue that most profoundly shapes the genome. We discuss recent progress in uncovering the mechanisms of germline mtDNA selection, from humans to invertebrates. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

Design and Control of Drones

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Mark W. Mueller ◽  
Seung Jae Lee ◽  
Raffaello D’Andrea
Keyword(s):  
Energy Consumption ◽  
Motion Planning ◽  
Recent Progress ◽  
Scaling Laws ◽  
Autonomous Systems ◽  
Annual Review ◽  
Publication Date ◽  
Trade Offs ◽  
Active Research ◽  
And Control

The design and control of drones remain areas of active research, and here we review recent progress in this field. In this article, we discuss the design objectives and related physical scaling laws, focusing on energy consumption, agility and speed, and survivability and robustness. We divide the control of such vehicles into low-level stabilization and higher-level planning such as motion planning, and we argue that a highly relevant problem is the integration of sensing with control and planning. Lastly, we describe some vehicle morphologies and the trade-offs that they represent. We specifically compare multicopters with winged designs and consider the effects of multivehicle teams. Expected final online publication date for the Annual Review of Control, Robotics, and Autonomous Systems, Volume 5 is May 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals The Need for a Human Pangenome Reference Sequence

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Karen H. Miga ◽  
Ting Wang
Keyword(s):  
Human Genome ◽  
Genome Sequence ◽  
Human Genetics ◽  
Genomic Diversity ◽  
Human Genome Sequence ◽  
Reference Sequence ◽  
Annual Review ◽  
Publication Date ◽  
Reference Structure ◽  
Reference Human Genome

The reference human genome sequence is inarguably the most important and widely used resource in the fields of human genetics and genomics. It has transformed the conduct of biomedical sciences and brought invaluable benefits to the understanding and improvement of human health. However, the commonly used reference sequence has profound limitations, because across much of its span, it represents the sequence of just one human haplotype. This single, monoploid reference structure presents a critical barrier to representing the broad genomic diversity in the human population. In this review, we discuss the modernization of the reference human genome sequence to a more complete reference of human genomic diversity, known as a human pangenome. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals The Yin and Yang of Histone Marks in Transcription

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Paul B. Talbert ◽  
Steven Henikoff
Keyword(s):  
Posttranslational Modifications ◽  
Human Genetics ◽  
Annual Review ◽  
Publication Date ◽  
Histone Marks ◽  
The Core ◽  
Core Histones ◽  
Yin And Yang ◽  
Transcriptional State ◽  
Histone Core

Nucleosomes wrap DNA and impede access for the machinery of transcription. The core histones that constitute nucleosomes are subject to a diversity of posttranslational modifications, or marks, that impact the transcription of genes. Their functions have sometimes been difficult to infer because the enzymes that write and read them are complex, multifunctional proteins. Here, we examine the evidence for the functions of marks and argue that the major marks perform a fairly small number of roles in either promoting transcription or preventing it. Acetylations and phosphorylations on the histone core disrupt histone-DNA contacts and/or destabilize nucleosomes to promote transcription. Ubiquitylations stimulate methylations that provide a scaffold for either the formation of silencing complexes or resistance to those complexes, and carry a memory of the transcriptional state. Tail phosphorylations deconstruct silencing complexes in particular contexts. We speculate that these fairly simple roles form the basis of transcriptional regulation by histone marks. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

Structural Mechanisms for Replicating DNA in Eukaryotes

2021 ◽  
Vol 90 (1) ◽  
Author(s):  
Ilan Attali ◽  
Michael R. Botchan ◽  
James M. Berger
Keyword(s):  
Nucleic Acid ◽  
Online Publication ◽  
Recent Progress ◽  
Molecular Machines ◽  
Cellular Process ◽  
Annual Review ◽  
Publication Date ◽  
Working Together ◽  
Protein Nucleic Acid ◽  
Structural Mechanisms

The faithful and timely copying of DNA by molecular machines known as replisomes depends on a disparate suite of enzymes and scaffolding factors working together in a highly orchestrated manner. Large, dynamic protein–nucleic acid assemblies that selectively morph between distinct conformations and compositional states underpin this critical cellular process. In this article, we discuss recent progress outlining the physical basis of replisome construction and progression in eukaryotes. Expected final online publication date for the Annual Review of Biochemistry, Volume 90 is June 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

Native Mass Spectrometry: Recent Progress and Remaining Challenges

2022 ◽  
Vol 51 (1) ◽  
Author(s):  
Kelly R. Karch ◽  
Dalton T. Snyder ◽  
Sophie R. Harvey ◽  
Vicki H. Wysocki
Keyword(s):  
Mass Spectrometry ◽  
Gas Phase ◽  
Structural Biology ◽  
Recent Progress ◽  
Native Mass Spectrometry ◽  
Structure And Function ◽  
Annual Review ◽  
Publication Date ◽  
Analysis Software ◽  
And Function

Native mass spectrometry (nMS) has emerged as an important tool in studying the structure and function of macromolecules and their complexes in the gas phase. In this review, we cover recent advances in nMS and related techniques including sample preparation, instrumentation, activation methods, and data analysis software. These advances have enabled nMS-based techniques to address a variety of challenging questions in structural biology. The second half of this review highlights recent applications of these technologies and surveys the classes of complexes that can be studied with nMS. Complementarity of nMS to existing structural biology techniques and current challenges in nMS are also addressed. Expected final online publication date for the Annual Review of Biophysics, Volume 51 is May 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Recent Progress in the Physics of Axions and Axion-Like Particles

2021 ◽  
Vol 71 (1) ◽  
Author(s):  
Kiwoon Choi ◽  
Sang Hui Im ◽  
Chang Sub Shin
Keyword(s):  
Recent Progress ◽  
Model Building ◽  
Formal Theory ◽  
Annual Review ◽  
Model Parameters ◽  
Publication Date ◽  
Axion Field ◽  
Wide Range ◽  
Pseudoscalar Particle ◽  
Field Excursion

The axion is a light pseudoscalar particle postulated to solve issues with the Standard Model, including the strong CP problem and the origin of dark matter. In recent years, there has been remarkable progress in the physics of axions in several directions. An unusual type of axion-like particle termed the relaxion was proposed as a new solution to the weak scale hierarchy problem. There are also new ideas for laboratory, astrophysical, or cosmological searches for axions; such searches can probe a wide range of model parameters that were previously inaccessible. On the formal theory side, the weak gravity conjecture indicates a tension between quantum gravity and a trans-Planckian axion field excursion. Many of these developments involve axions with hierarchical couplings. In this article, we review recent progress in axion physics, with particular attention paid to hierarchies between axion couplings. We emphasize that the parameter regions of hierarchical axion couplings are the most accessible experimentally. Moreover, such regions are often where important theoretical questions in the field are addressed, and they can result from simple model-building mechanisms. Expected final online publication date for the Annual Review of Nutrition, Volume 41 is September 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Scaling Genetic Counseling in the Genomics Era

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Laura M. Amendola ◽  
Katie Golden-Grant ◽  
Sarah Scollon
Keyword(s):  
Genetic Counseling ◽  
Human Genetics ◽  
Massively Parallel Sequencing ◽  
Genomic Medicine ◽  
Genetic Counselors ◽  
Annual Review ◽  
Publication Date ◽  
Counseling Training ◽  
Key Stakeholders ◽  
Genetic Counseling Service

The development of massively parallel sequencing–based genomic sequencing tests has increased genetic test availability and access. The field and practice of genetic counseling have adapted in response to this paradigm-shifting technology and the subsequent transition to practicing genomic medicine. While the key elements defining genetic counseling remain relevant, genetic counseling service delivery models and practice settings have evolved. Genetic counselors are addressing the challenges of direct-to-consumer and consumer-driven genetic testing, and genetic counseling training programs are responding to the ongoing increased demand for genetic counseling services across a broadening range of contexts. The need to diversify both the patient and participant groups with access to genetic information, as well as the field of genetic counseling, is at the forefront of research and training program initiatives. Genetic counselors are key stakeholders in the genomics era, and their contributions are essential to effectively and equitably deliver precision medicine. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Applications of Single-Cell DNA Sequencing

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Gilad D. Evrony ◽  
Anjali Gupta Hinch ◽  
Chongyuan Luo
Keyword(s):  
Dna Sequencing ◽  
Single Cell ◽  
Human Genetics ◽  
Single Cells ◽  
Annual Review ◽  
Publication Date ◽  
Genomic Analyses ◽  
Somatic Mutagenesis ◽  
Organismal Development ◽  
Fundamental Units

Over the past decade, genomic analyses of single cells—the fundamental units of life—have become possible. Single-cell DNA sequencing has shed light on biological questions that were previously inaccessible across diverse fields of research, including somatic mutagenesis, organismal development, genome function, and microbiology. Single-cell DNA sequencing also promises significant future biomedical and clinical impact, spanning oncology, fertility, and beyond. While single-cell approaches that profile RNA and protein have greatly expanded our understanding of cellular diversity, many fundamental questions in biology and important biomedical applications require analysis of the DNA of single cells. Here, we review the applications and biological questions for which single-cell DNA sequencing is uniquely suited or required. We include a discussion of the fields that will be impacted by single-cell DNA sequencing as the technology continues to advance. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Utility and Diversity: Challenges for Genomic Medicine

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Wylie Burke
Keyword(s):  
Human Population ◽  
Clinical Utility ◽  
Human Genetics ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Annual Review ◽  
Publication Date ◽  
Genomic Information ◽  
European Descent ◽  
Genomic Knowledge

Genomic information is poised to play an increasing role in clinical care, extending beyond highly penetrant genetic conditions to less penetrant genotypes and common disorders. But with this shift, the question of clinical utility becomes a major challenge. A collaborative effort is necessary to determine the information needed to evaluate different uses of genomic information and then acquire that information. Another challenge must also be addressed if that process is to provide equitable benefits: the lack of diversity of genomic data. Current genomic knowledge comes primarily from populations of European descent, which poses the risk that most of the human population will be shortchanged when health benefits of genomics emerge. These two challenges have defined my career as a geneticist and have taught me that solutions must start with dialogue across disciplinary and social divides. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Heart Development and Congenital Structural Heart Defects

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Lucile Houyel ◽  
Sigolène M. Meilhac
Keyword(s):  
Congenital Heart Defects ◽  
Heart Development ◽  
Congenital Heart ◽  
Human Genetics ◽  
Current Knowledge ◽  
Phenotypic Diversity ◽  
Heart Defects ◽  
Annual Review ◽  
Publication Date ◽  
Research Perspectives

Congenital heart disease is the most frequent birth defect and the leading cause of death for the fetus and in the first year of life. The wide phenotypic diversity of congenital heart defects requires expert diagnosis and sophisticated repair surgery. Although these defects have been described since the seventeenth century, it was only in 2005 that a consensus international nomenclature was adopted, followed by an international classification in 2017 to help provide better management of patients. Advances in genetic engineering, imaging, and omics analyses have uncovered mechanisms of heart formation and malformation in animal models, but approximately 80% of congenital heart defects have an unknown genetic origin. Here, we summarize current knowledge of congenital structural heart defects, intertwining clinical and fundamental research perspectives, with the aim to foster interdisciplinary collaborations at the cutting edge of each field. We also discuss remaining challenges in better understanding congenital heart defects and providing benefits to patients. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

Sign in / Sign up

Export Citation Format

Share Document