15 papers · ranked by Valyu relevance
Authors not listed
Genetics is the study of genes-the heritable information that contains the codes for proteins and other molecules which form and maintain an organism’s structure and function. In most organisms, these genes are found in strands of deoxyribonucleic acid (DNA) molecules. The specific structure of the DNA (described…
Hans Binder, Arsen Arakelyan
The term “gene” was introduced more than a hundred years ago to define a “fundamental physical and functional unit of heredity” [1]. Its use refers back to Mendel’s idea about discrete hereditable units, and it also serves as a reminiscence of Darwin’s pangenesis theory. Watson and Crick’s double helix discovery in…
James A Birchler, Hua Yang
Gene duplications have long been recognized as a contributor to the evolution of genes with new functions. Multiple copies of genes can result from tandem duplication, from transposition to new chromosomes, or from whole-genome duplication (polyploidy). The most common fate is that one member of the pair is deleted to…
Authors not listed
Each cell must produce a specific set of proteins to fulfill its functions, and protein synthesis often must be adjusted in response to changing internal and external events. Accordingly, gene expression is regulated by an assortment of proteins and other substances that tell genes in different cells when to turn on…
Claudio Casola, Victor Luria, Nikolaos Vakirlis, Li Zhao + 1 more
The recent Society for Molecular Biology and Evolution Satellite Meeting on De Novo Gene Birth, hosted at Texas A&M University on November 6 to 9, 2023, represented the first-ever opportunity for scientists studying the evolution and biology of de novo genes to gather through a dedicated meeting and discuss about…
Michael J. Milligan, Leonard Lipovich
In the more than one decade since the completion of the Human Genome Project, the prevalence of non-protein-coding functional elements in the human genome has emerged as a key revelation in post-genomic biology. Highlighted by the ENCODE (Encyclopedia of DNA Elements) and FANTOM (Functional Annotation of Mammals)…
Evelyn Fox Keller, David Harel, Thomas Zwaka
This paper is a response to the increasing difficulty biologists find in agreeing upon a definition of the gene, and indeed, the increasing disarray in which that concept finds itself. After briefly reviewing these problems, we propose an alternative to both the concept and the word gene-an alternative that, like the…
Mengyao Sun, Yanni Ma, Jia Yu
Pseudogenes, as important products of genomic evolution, play unique regulatory roles in species adaptation. This review systematically summarizes the major types, functions, and regulatory mechanisms of metazoans pseudogenes, with a particular focus on their formation during primate evolution and the mechanisms…
W. Ford Doolittle, Tyler D. P. Brunet
The idea that much of our genome is irrelevant to fitness-is not the product of positive natural selection at the organismal level-remains viable. Claims to the contrary, and specifically that the notion of “junk DNA” should be abandoned, are based on conflating meanings of the word “function”. Recent estimates suggest…
Xinling Hu, Liu Yang, Yin-Yuan Mo
Functional genomics has provided evidence that the human genome transcribes a large number of non-coding genes in addition to protein-coding genes, including microRNAs and long non-coding RNAs (lncRNAs). Among the group of lncRNAs are pseudogenes that have not been paid attention in the past, compared to other members…
Michaela Drobek, Nihar R Nayak, Gary Sutkin, Sunil Jaiman
During evolution, gene duplications lead to a naturally increased gene dosage. Duplicated genes can be further retained or eliminated over time by purifying selection pressure. The retention probability is increased by functional diversification and by the acquisition of novel functions. Interestingly, functionally…
Alex Dornburg, Rittika Mallik, Zheng Wang, Moisés A. Bernal + 7 more
'Brian Thompson' 'Elspeth A. Bruford' 'Daniel W. Nebert' 'Vasilis Vasiliou' 'Laurel R. Yohe' 'Jeffrey A. Yoder' 'Jeffrey P. Townsend'] Following the draft sequence of the first human genome over 20 years ago, we have achieved unprecedented insights into the rules governing its evolution, often with direct translational…
Authors not listed
The announcement of the human genome sequence three years ago was widely hailed as one of the great scientific achievements in modern history, and with good reason. Determining the structure and nature of the genetic code promises to provide valuable insights into human evolution and the molecular basis of disease. But…
Patrick R. Gonzales, Quan Zou
Cytogenomics, including karyotyping, FISH, chromosomal microarrays, and optical genome mapping, has yielded significant results for clinical phenotypes in constitutional and cancer genetics, including intellectual disability, autism spectrum disorders, dysmorphic features, and hematological and solid-tissue neoplasia.…
J. Peter W. Young
Genes have been in the scientific vocabulary for a hundred years. The term "gene" was proposed by the Danish plant scientist Wilhelm Johannsen in the first decade of the 20th century. For Johannsen, the gene remained an abstract concept, "free of any hypothesis" [1], but others were already pointing to chromosomes as…