Discovery and research
Peter S. Harper in The Evolution of Medical Genetics, 2019
The discovery of DNA instability in Huntington's disease and other trinucleotide repeat disorders has been only one of a number of research developments to show that the genome is less ‘hard-wired’ than had been previously thought likely. These cannot be given adequate space here but must at least have a mention, in particular the numerous aspects of gene function that are not directly dependent on the DNA sequence of an individual gene or the genome as a whole, and which are broadly covered by the term ‘epigenetics’, a term first used by Conrad Hal Waddington in the 1930s. Developmental genetics as a whole has been especially involved in these wider processes, which form part of genetics just as much as do the sequences of the individual genes that underlie them. Notable examples include the role of methylation in the activation and inactivation of gene function, which is responsible for a series of human developmental abnormalities.
Cancer
Shamim I. Ahmad in Aging: Exploring a Complex Phenomenon, 2017
Developmental biology traditionally presents the human ontogeny with emphasis on the birth of a child or on body growth. However, aging is another integral component of human ontogeny. This process seems to be influenced by many endogenous as well as exogenous factors. It was described in monozygotic twins that the age of onset, as well as disease occurrence and course, can be quite discordant [67,68]. However, our life span seems to be genetically determined including reduced activity of gene repair that can reflect the high incidence of malignant tumors in the elderly. The activity of genes such as transcription factors of the FOXO family can affect the extreme longevity of centenarians in a pleiotropic manner, influencing several cell-regulated activities such as stress resistance, metabolism, cell cycle arrest, and apoptosis, and probably minimize cancer incidence in the elderly [69].
Epidemiology of clubfoot
R. L. Mittal in Clubfoot, 2018
Human genetics is a study of inheritance of diseases in human beings and it is a vast subject. There are a large number of fields under human genetics, for example, classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics and genetic counseling (medical genetics), and so on. All of these aspects are being explored by a large number of investigators all over the world. There is ample progress, but still, there are many gray areas requiring further research. The genetics of clubfoot too, is a highly complex and specialized subject and also multifactorial and polygenic in nature, and investigators are exploring all these possibilities, and some tangible progress has been made herein. To discuss complete genetics of congenital defects in general, and clubfoot in particular, is not the subject of this book. However, some basic aspects will be discussed, which will be helpful in the prevention and treatment of this unsolved common deformity.
Stories of spinster with various faces: from courtship rejection to tumor metastasis rejection
Published in Journal of Neurogenetics, 2019
Forward genetics has played a central role in understanding various biological phenomena, and work in Drosophila and zebrafish (Danio rerio) has contributed to recent advances in developmental biology and neuroscience. Three different fly groups independently isolated the same gene in different screening projects. Yamamoto et al. screened P element insertion lines for abnormal courtship behavior (Yamamoto & Nakano, 1999) and identified one, spinster (spin) (Nakano et al., 2001; Suzuki, Juni, & Yamamoto, 1997), in which the female fly strongly rejected male courtship. Sweeney and Davis were interested in synaptic structure and function, and isolated the diphthong mutant in which synapses showed a 200% increase in bouton number and impaired presynaptic release (Sweeney & Davis, 2002). Finally, Dermaut et al. investigated genes expressed in the nervous system and isolated benchwarmer (bnch) mutants for an enhancer detector screen. diphthong and bnch were later found to be allelic to spin (Dermaut et al., 2005).
Effects of circadian clock protein Per1b on zebrafish visual functions
Published in Chronobiology International, 2018
Ke Nie, Kun Wang, Deng-feng Huang, Yu-bin Huang, Wu Yin, Da-long Ren, Han Wang, Bing Hu
The ease of genetic manipulation in combination with the transparency of the embryos and the rapidity of development made zebrafish one of the most popular vertebrate model organisms in developmental biology (Fleisch and Neuhauss 2006). Zebrafish have also been validated as an excellent animal model for exploring the genetic and developmental basis of behavioral disorders (Lieschke and Currie 2007; Rihel et al. 2010). Several studies concerning circadian rhythms in locomotor activity, pineal melatonin synthesis, immune responses (Ren et al. 2015a, 2015b) and the visual system (Cahill 1996, 2002; Cahill et al. 1998; Hurd et al. 1998) have been reported, though the relationship between vision and the circadian system in zebrafish has not been receiving much attention in the past several decades. However, the interest in circadian mechanisms in zebrafish has been growing recently, mainly due to the advantages of zebrafish for the genetic analysis of clock mechanisms and circadian clock-related behavioral and physiological disorders (Huang et al. 2015; Wang et al. 2015).
She Has Her Mother’s Laugh: The Powers, Perversions, and Potential for Heredity
Published in Psychiatry, 2020
Zimmer intersperses detailed, but accessible lessons in genetics and developmental biology throughout the book, to provide the reader with the background with which to place each of the scientific advances presented within a historical and cultural context. In this way, Zimmer engages both the novice science reader as well as scientists and researchers more well-versed in the subject matter. Robert Bakewell’s efforts in the 1700s to cross-breed sheep, and create a new breed, was described as an innovative attempt to manipulate the laws of heredity at a time when they were barely understood. This was a precursor of Gregor Mendel’s early research on hybridization and cross-pollination, describing how distinctive traits are passed from ancestor to descendant using yellow and green pea plants, and Luther Burbank’s work in the late 1800s, initially based on Charles Darwin’s writings, to develop new plant varieties that could pass down their new combinations of traits to future generations. Burbank’s advances were touted as those of a botanical alchemist, “In his laboratory garden, he has done for Nature in part of a man’s lifetime what Nature couldn’t do for herself in thousands and thousands of years” (page 52).
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