China
Africa
Explore chapters and articles related to this topic
Genetics and exercise: an introduction
Published in Adam P. Sharples, James P. Morton, Henning Wackerhage, Molecular Exercise Physiology, 2022
Claude Bouchard, Henning Wackerhage
According to the Genome Reference Consortium, we have 20,465 genes in our human genome. Most genes start with an ATG start codon (which is transcribed into AUG in RNA) that encodes methionine as the first amino acid of a protein. Genes also end with a stop codon which can be TAG, TGA or TAA in DNA or UAG, UGA and UAA when transcribed into RNA. Three DNA bases, termed a triplet, encode one amino acid within a protein. Since there are 64 possible combinations of 4 DNA bases in a 3-base code and only 20 common amino acids to specify, the genetic code is redundant, with most amino acids being encoded by more than one triplet. Table 3.2 lists the codons encoding each amino acid.
Regulatory Challenges for Gene Delivery
Published in Yashwant Pathak, Gene Delivery, 2022
Vineet Mahajan, Shruti Saptarshi, Yashwant Pathak
Gene editing can be used to manipulate somatic as well as germline DNA. In humans, gene editing can facilitate treatment and prevention of genetic as well as rare diseases. Somatic manipulation of the human genome is the basis for most interventional gene therapies, and as discussed above, currently there are several such clinical trials in the regulatory pipeline. However, application of CRISPER Cas techniques for human germline gene editing are not well conceived worldwide, due to obvious moral and ethical concerns. Regulatory laws for germline editing related to reproductive purposes have been classified as “restrictive,” “legally prohibited,” ambiguous,” or “prohibited by guidelines “by most countries. The US National Academy of Science, engineering and Medicine (NASEM) report 2017, has implicit guidelines for human gene editing related issues.40
Approach to women with a previous child with a genetic disorder
Published in Minakshi Rohilla, Recurrent Pregnancy Loss and Adverse Natal Outcomes, 2020
It is worth understanding the human genome first before discussing genetic disorders. The human genome is the entire “treasury of human inheritance.” It consists of 46 chromosomes, including 44 autosomal chromosomes and 2 sex chromosomes. These chromosomes are made up of DNA base pairs. A short segment of DNA forms a gene. Genes contain the instruction manual for our bodies. They direct the building of all proteins that make our body function. Genes are present in pairs, except those on sex chromosomes. After fertilization, the embryo contains 23 pairs of chromosomes (one pair from each parent). Therefore, a baby receives half of its genes from the mother and the other half from the father.
What Difference Can Public Engagement in Genome Editing Make, and for Whom?
Published in The American Journal of Bioethics, 2023
Richard Milne, Ugbaad Aidid, Jerome Atutornu, Tuba Bircan, Daniela Boraschi, Alessia Costa, Sasha Henriques, Christine Patch, Anna Middleton
The ethics discourse around genome editing, which emphasizes that decisions about the human genome are decisions for humanity, here also presents challenges for engagement—not least how we balance desires to “group” or “split” publics. Prominent advocates of deliberative democracy have indeed put forward models of how a global deliberative assembly might work (Dryzek, Bächtiger, and Milewicz 2011). Practically, the 2021 Global Citizens’ Assembly on the Climate and Ecological Crisis, which presented its conclusions at COP26, might offer an example of such an approach—with 100 members chosen by sortation from 100 locations across 49 countries, weighted to represent the global population. The climate assembly aimed to impact the activities of institutions and publics in relation to the climate, while exploring new modes of governance.
The role of proteomics in the multiplexed analysis of gene alterations in human cancer
Published in Expert Review of Proteomics, 2021
Niraj Babu, Mohd Younis Bhat, Arivusudar Everad John, Aditi Chatterjee
With the release of the human genome sequence in 2000, research community has realized the role of gene product proteins in regulating and controlling the phenotype. This led to the emergence of The Human Proteome Project (HPP) an international effort initiated by the Human Proteome Organization (HUPO). HPP directed its efforts to annotate all the proteins called chromosome-centric program (C-HPP) and to characterize role of these proteins in disease biology (B/D-HPP) with mass spectrometry as one of the main pillars of exploration. The aim of B/D-HPP is to create an in-depth repository of expressed protein isoforms/ post-translational modifications and apply this information to unravel molecular mechanisms that lead to cancer development and progression in addition to other disease conditions. The mandate of B/D-HPP is to bring transformation in biomedical research by making possible accurate and precise detection and quantification of all human proteins and their association with disease pathogenesis. This will further enable interrogation of genomics and proteomics data to improve clinical decision making and outcomes.
An overview of sex and reproductive immunity from an evolutionary/anthropological perspective
Published in Immunological Medicine, 2021
Yoshihiko Araki, Hiroshi Yoshitake, Kenji Yamatoya, Hiroshi Fujiwara
So how did mammals acquire the placenta? The human genome (all the DNA on chromosomes) is composed of approximately 3 billion base pairs. However, only a small proportion of the genome actually encodes proteins (the structural genes). The remaining genome contains sequences called ‘transposons’ [21], some of which are thought to be derived from ‘retroviruses’ such as human immunodeficiency virus. This suggests that during viral infections throughout evolutionary history, viruses were incorporated into the chromosomes of the infected organisms and passed down to the next generation through assimilation. The placenta has a completely different shape depending on the species. One hypothesis is that genes derived from retroviruses, Peg10/Sirh1 and Peg11/Sirh2, were important in the evolution of placental development [22–24]. The diversity of placental form and function is thought to be the result of successive, independent events [25].