GENETICS AND DEVELOPMENTAL BIOLOGY

A study was conducted  to understand the Avian diversity at Pampadum Shola National Park, which is located on the Eastern portion of the High Ranges of Southern Western Ghats of Kerala. The study period was from 13th to 28th February 2014. The methodology adopted for studying the diversity was Transect method and Opportunistic observation.  Sixty Transect walks were carried out to observe birds. A total of 63 species of birds were identified belonging to 27 families. Among them 52 were Residents, 8 were Migrants, and 3 were Local Migrants. Among the 63 species observed, 15 of them were reported for the first time during the study.Out of 19 western ghats endemics eight of them were found in study.They were Vulnerable Nilgiri wood pigeon, Grey breasted laughing thrush, Nilgiri laughing thrush, Black and Orange flycatcher, Nigiri flycatcher, Malabar grey hornbill, small sun bird and White bellied blue flycatcher. Muscicapidae, Motacillidae, Columbidae, Accipitridae and Pyconotidae were the dominant families observed in the study area and the remaining families observed were uniformly distributed. Dominant species observed were Indian swiftlet, Pied buschat, Jungle crow, Oriental white eye, Nilgiri flycatcher, Nilgiri and Grey breasted laughing thrush.  The study reveals that Pampadum Shola National Park is a very potential habitat especially for high altitude birds and maximum care should be taken for the conservation of this unique habitat type in the Western Ghats.

All diploid sexual organisms have two distinct haploid genomes, one from each parent. There is the male derived haploid genome and the female derived haploid genome. Each genome contains a distinct developmental control network that directs the development of the embryo to an adult. Run separately, independent of the influence of the other network, the each haploid genome produces a morphologically different organism. The interrelationship of the male and female haploid genome networks is governed by an interaction protocol that determines which parental network is in control in any given cell at any given point in development. The protocol consists of two interacting half-protocols, one for each parental hap-loid genome. The full interaction protocol is itself a higher-level, meta-network, or internetwork between the two lower-level, parental developmental control networks. Computer simulations show that if the interaction protocol is random then there is a loss of bilateral symmetry in the generated organism. Therefore, for all bilaterally symmetric organisms, the interaction protocol between the two parental genomes cannot be random. This implies that a nonrandom ur-protocol must have evolved with the first diploid bilaterians in the Precambrian more than 570 million years ago. Nonrandom protocols partition the embryo and adult into dynamic sections that are variably controlled by one or the other parental haploid genome network. Developmental networks and their meta-network protocols provide fundamentally new insights into embryonic and post-embryonic development, developmental pathologies, animal and plant hybrids, heterosis, and evolutionary dynamics.

L'epochè fenomenologica va radicalmente ripensata: non è una messa fra parentesi del mondo ma un esercizio di trasformazione che porta a superare un posizionamento egocentrico nel mondo. Maggiore è la capacità di superare la prospettiva egocentrica maggiore sarà la Weltoffenheit. In questa prospettiva è possibile individuare una convergenza fra Scheler e Marion.

Advances in developmental genetics and evo-devo in the last several decades have enabled the growth of novel developmental approaches to the classic theme of homology. These approaches depart from the more standard phylogenetic view by contending that homology between morphological characters depends on developmental-genetic individuation and explanation. This paper provides a systematic re-examination of the relationship between developmental and phylogenetic homology in light of current evidence from developmental and evolutionary genetics and genomics. I present a qualitative model of the processes that cause de-coupling of morphological and molecular evolution by developmental system drift (DSD), and hypothesize that DSD is a widespread and regular stochastic process that is predictable from parameters such as population size, pleiotropy, and regulatory redundancy. These theoretical findings support an integrative approach in which models of DSD aid in determining when developmental-genetic explanations of homology apply and when other explanations such as stabilizing selection are needed. I argue that a phylogenetic monism about the definition and criteria of homology supports the integration of different explanations into a theory of homology better than pluralism does.

The concept of health has been mainly interpreted from the pharmacological point of view of «cure», so far. In this paper I consider the concept of health from the viewpoint of «care». This allows to think the health with reference to the care of desire, that is to say to a process of cultivation of emotions that, thanks to an act of overcoming egocentricity and envy, becomes care of the world.

Chapter 1: Five Arguments for a New Theory of Biological Individuation 1.1 Ontophylogenesis 1.2 Random man 1.3 The same kind of laws govern biology and physics 1.4 The first principle of biology 1.5 Man lost in the Amazonian forest Chapter 2: What is a Probabilistic Process? Summary of the chapter 2.1 There is no qualitative difference between determinism and probabilism 2.2 Errors related to using probability 2.2.1 Probability does not deny causality 2.2.2 Probability is not incompatible with reproducibility 2.2.3 Probability, accident and contingency are not synonymous 2.2.4 Probability is not noise Chapter 3: The Determinism of Molecular Biology Summary of the chapter 3.1 Order from order 3.2 Stereospecific self-assembly 3.3 Genetic programming and signalling Chapter 4: The Contradiction in Genetic Determinism Summary of the chapter 4.1 The non-specificity of biological molecules 4.1.1 Non-specificity in metabolism 4.1.2 Non-specificity in the immune reaction 4.1.3 Non-specificity in cell signalling 4.1.4 Non-specificity in the control of gene expression 4.1.5 Overall non-specificity of protein networks 4.2 The causes of molecular non-specificity 4.2.1 The multiplicity of interaction domains 4.2.2 The plasticity of interaction sites 4.2.3 Molecular disorder 4.2.4 Specificity is not an experimental concept 4.3 The consequence of molecular non-specificity: Return to holism 4.3.1 The network won't work 4.3.2 Negating the principle of order from order Chapter 5: Self-Organisation Does Not Resolve the Contradiction in Genetic Determinism Summary of the chapter 5.1 The scientific principles xvi The Origin of Individuals 5.2 Philosophical holism 5.3 Biological holism 5.3.1 The neo-vitalistic holism of Hans Driesch 5.3.2 The neo-vitalistic holism of Walter Elsasser 5.3.3 Self-organisation according to Prigogine 5.3.4 Self-organisation according to Stuart Kauffman 5.3.5 Self-organisation according to Atlan 5.3.6 Self-organisation according to Weiss 5.3.7 Self-organisation according to Kirschner, Gerhardt and Mitchison 5.4 Self-organisation does not exist Chapter 6: Hetero-organisation Summary of the chapter 6.1. Ontogenesis and phylogenesis are but one process 6.1.1 The model of the heap of cells and the origin of multicellularity 6.1.2 The organism interiorises its environment 6.1.3 The organism functions for the cells, not the reverse 6.2 The deterministic theory of cell differentiation 6.2.1 Embryonic induction 6.2.2 The instructive model 6.2.3 The instructive model trips up against the contradiction in genetic determinism Contents xvii 6.2.4 The instructive model does not account for variability in cell differentiation 6.2.5 The instructive model does not account for stochastic gene expression 6.3 The Darwinian theory of cell differentiation 6.3.1 From differentiation to cell identification 6.3.2 From metabolic selection to stabilisation by the 'signal-food' 6.3.3 Role of signals in the Darwinian model 6.3.4 Mode of action of a signal (selector, signal-food) 6.3.5 Experimental data relating to cell selection and stabilisation 6.3.6 Testable predictions of the Darwinian model 6.4 Simulation of the Darwinian model 6.4.1 Interstabilisation and autostabilisation produce different effects 6.4.2 Cell selection creates organised structures 6.4.3 Spontaneous growth arrest is the result of equilibrium between cell selection and phenotype autostabilisation 6.4.4 A new conception of cancer 6.4.5 The role of morphogenetic gradients in the Darwinian model 6.4.6 Does the Darwinian model lead to the emergence of new properties? 6.4.7 Is the body a cell ecosystem? xviii The Origin of Individuals 6.5 Models of gene expression 6.5.1 Networks with noise 6.5.2 Self-organisation model of chromatin 6.5.3 The stochastic expression of genes subject to natural selection Chapter 7: Biology's Blind Spot Summary of the chapter 7.1 Generation according to Hippocrates 7.2 Generation according to Aristotle 7.3 The pangenetic theory 7.4 The return of Form 7.5 The contradiction in genetic determinism is a consequence of genetic essentialism 7.6 Beyond the species Conclusion: A Research Programme and Ethical Principle based on Ontophylogenesis Glossary

"Siamo come lucciole che hanno disimparato a illuminare e che prima si sono messe a girare attorno alla lanterna magica dell'ideale ascetico e ora attorno alle insegne pubblicitarie al neon. Lucciole che hanno scordato d’avere una potenzialità di orientatività preziosa nel proprio sistema affettivo" (G. Cusinato, La totalità incompiuta, Milano 2008, 314).

Ventral folding morphogenesis (VFM), a vital morphogenetic process in amniotes, mediates gut endoderm internalization, linear heart tube formation, ventral body wall closure and encasement of the fetus in extraembryonic membranes. Aberrant VFM underlies a number of birth defects such as gastroschisis and ectopia cordis in human and misplacement of head and heart in mouse. Recent cell lineage-specific mouse mutant analyses identified the Bone Morphogenetic Protein (BMP) pathway and Anterior Visceral Endoderm (AVE) as key regulators of anterior VFM. Loss of BMP2 expression solely from embryonic visceral endoderm (EmVE) and the AVE blocks formation of foregut invagination, and simultaneously, aberrantly positions the heart anterior/dorsal to the head, suggesting a mechanistic link between foregut and head/heart morphogenesis.

The third edition of Edmund Beecher WILSON’s The Cell in Development and Inheritance  was not only the last textbook, written by one single author, that united cytology, developmental biology and inheritance, probably it was likewise the last attempt to keep these three branches together in a synthetic theory. One of the most apparent characteristics of WILSON’s textbook is its openness to ›philosophical‹ argumentation. Its intent was not to ›procure only facts‹ but to bridge the disciplines that were breaking separate. The paper concentrates less on WILSON’s ideas about development and inheritance and more on his cytological and cytomorphological concepts that were hitherto neglected. The author is convinced that they reveal his attempt to provide a comprehensive framework for the various theories of his time, and that they could give a probable explanation for the apparent contradictions in Wilson’s own intellectual development.

Protein Coding-Gen DIO1 (Iodothyronine deiodinase 1) Sebagai Gen Pengkode Hormon Tiroid ARTIKEL Disusun untuk memenuhi salah satu tugas mata kuliah Genetika Perkembangan dengan dosen pengampu Dr. Soni Heru Sumarsono Oleh: Istikoyah (20616312) Abstrak Gen DI01 adalah gen yang mengkatalis dan mengaktifkan atau inaktivasi hormon tiroid. Hormon tersebut berupa derivat amin dan metabolisme selenium dan selenoprotein. Lokasi gen DIO1 berada di 53.891.239 pb dari pter (Phosphotriesterase related) dan tahapan akhir (End) pada 53.911.086 pb dari pter. Pada manusia, gen DIO1 berlokasi di p32-p33 pada kromosom 1 yang terdiri dari empat ekson. Famili dari gen ini yaitu Gene HGNC Selenoproteins yang merupakan bagian dari famili selenoprotein dan terdapat dibagian homeostasis lokal dan periferal dari tiroid. Peran dari gen DIO1 adalah meregulasi metabolisme tubuh, penstabil pengaruh ekspresi gen, sebagai termoregulasi, metabolisme energi, dan sebagai reaksi kunci dari perkembangan dan kestabilan organisme dewasa. Berdasarkan evousinya yang bersumber dari database genom ESEMBL, kekerabatan gen DIO1 pada manusia berkerabat dekat dengan gen DIO1 simpanse. Sedangkan TreeFam dari gen DIO1 manusia memiliki hubungan kekerabatan dengan tikus rumah. Kata Kunci: Gen DIO1, tiroid, tiroksin I. Pendahuluan Hormon tiroid berperan penting dalam perkembangan, pertumbuhan, dan metabolisme tubuh manusia, khususnya otak (Hetzel dan Clugston, 1999). Aktivasi dan inaktivasi dari hormon tiroid dilakukan oleh Iodotironin deiodinase tipe 1 (DIO1) (Moreno, dkk., 1994). Gen DIO1 adalah gen yang mengkatalis dan mengaktifkan atau inaktivasi hormon tiroid. Hormon tersebut berupa derivat amin dan metabolisme selenium dan selenoprotein. Anotasi GO (gen ontologi) yang berhubungan dengan gen ini mencakup selenium binding dan aktivitas thyroxine 5-deiodinase (Lancet, dkk., 1996-2017). Terdapat tiga jenis enzim dari deiodinase (deiodinase tipe 1 (D1), D2, dan D3) yang berperan penting dalam menjaga kestabilan kinerja tiroid dalam serum darah maupun jaringan. Peran ini dalam menjaga aktifitas dalam jaringan, gangguan penyakit, dan kondisi keseimbangannya. Hal tersebut diatur dan diseimbangkan oleh hormon aktif T 3 , hormon inaktif prohormon T 4 yang bisa diaktivasi oleh konversi dengan T 3 , dan inaktif metabolisme rT 3 , dan diiodotironin (T 2) (Panicker, dkk., 2008).

During ventral spinal cord (vSC) development, the p3 and pMN progenitor domain boundary is thought to be maintained by cross-repressive interactions between NKX2.2 and PAX6. Using loss-of-function analysis during the neuron-glial fate switch we show that the identity of the p3 domain is not maintained by the repressive function of NKX2.2 on Pax6 expression, even in the absence of NKX2.9. We further show that NKX2.2 is necessary to induce the expression of Slit1 and Sulfatase 1 (Sulf1) in the vSC in a PAX6independent manner. Conversely, we show that PAX6 regulates Sulf1/Slit1 expression in the vSC in an NKX2.2/NKX6.1-independent manner. Consequently, deregulation of Sulf1 expression in Pax6-mutant embryos has stage-specific implications on neural patterning, associated with enhancement of Sonic Hedgehog activity. On the other hand, deregulation of Slit1 expression in gliogenic neural progenitors leads to changes in Astrocyte subtype identity. These data provide important insights into specific functions of PAX6 and NKX2.2 during glial cell specification that have so far remained largely unexplored.

We have used a gene trap (GT) vector and embryonic stem (ES) cell chimeras to screen for insertions of the /acZ reporter gene into transcription units that are spatially and temporally regulated during early mouse embryogenesis. GT vectors which can act as both a reporter and a mutagen have been previously used to isolate new genes that are essential for mouse development. In this paper we describe a GT insertion which displays a very restricted pattern of expression in the gastrulating embryo. p-Galactosidase activity was first detected at 7.5 days post-coitum (E7.5) in the node region of the embryo and extended to the midline structures at E8.0. At E9.5 expression was restricted to the floor plate, the notochord, the roof of the gut, and the liver anlage.

Currently, evolutionary research focuses on phenomena that go beyond the traditional genetic paradigm. The paradox of excess DNA for coding significant elements of the genome has been known for a long time, but only in recent years it was found out that most of the so-called "junk" DNA is actually literally saturated with various regulatory sites. While human coding sequences make up 1.5% of the genome, thousands of genes program the synthesis of non-coding RNAs that regulate gene expression at many levels. In particular, many miRNAs (small interfering RNAs) and microRNAs are involved in the regulation of genes, increasing or decreasing its activity. It is assumed that genes responsible for general adaptation mechanisms can serve as target genes for these miRNAs.

The neural crest (NC) is a transient multipotent cell population that originates in the dorsal neural tube. Cells of the NC are highly migratory, as they travel considerable distances through the body to reach their final sites. Derivatives of the NC are neurons and glia of the peripheral nervous system (PNS) and the enteric nervous system as well as non-neural cells. Different signaling pathways triggered by Bone Morphogenetic Proteins (BMPs), Fibroblast Growth Factors (FGFs), Wnt proteins, Notch ligands, retinoic acid (RA), and Receptor Tyrosine Kinases (RTKs) participate in the processes of induction, specification, cell migration and neural differentiation of the NC. A specific set of signaling pathways and transcription factors are initially expressed in the neural plate border and then in the NC cell precursors to the formation of cranial nerves. The molecular mechanisms of control during embryonic development have been gradually elucidated, pointing to an important role of transcriptional regulators when neural differentiation occurs. However, some of these proteins have an important participation in malformations of the cranial portion and their mutation results in aberrant neurogenesis. This review aims to give an overview of the role of cell signaling and of the function of transcription factors involved in the specification of ganglia precursors and neurogenesis to form the NC-derived cranial nerves during organogenesis.

Serpins constitute the largest family of peptidase inhibitors in plants, animals and microbes. Genomic studies of Drosophila melanogaster have indicated the presence of 29 genes encoding proteins with a putative serpin domain. Little is known about the developmental functions of these serpins in Drosophila. In this study, the possible roles of Spn-5 gene have been investigated. Two mutations of Spn-5, as well as UAS transgenic lines of Spn-5 wild type gene and RNAi, were used to study some possible functions of Spn-5 during Drosophila development. Two lethal mutations of Spn-5 indicated their important function for larval viability, resulting in a lethal effect on the second instar larvae. To investigate the effects of these mutations on metamorphosis and adult flies, both somatic and germ line clone systems were used. Results showed high frequencies of melanotic tumors in both larval and adult stages, strong defect on bristles, wing and eye development as well as inhibition of oogenesis in homozygous clones. Over expression of UAS Spn-5 wild type using different specific GAL4 drivers showed dominant negative effect. Meanwhile, GAL4/UAS Spn-5 RNAi over expression showed efficient interference with the wild type gene expression during eye and wing development. In general, all resulted expressions were similar for those phenotypes in somatic clone assays. Results indicated the importance of Spn-5 gene product(s) for proper development of wings, eyes, bristles and oogenesis as well as importance of this gene as negative regulator of Toll pathway.

The T-box transcription factor Tbx3 plays multiple roles in normal development and disease. In order to function in different tissues and on different target genes, Tbx3 binds transcription factors or other cofactors specific to temporal or spatial locations. Examining the development of the mammary gland, limbs, and heart as well as the biology of stem cells and cancer provides insights into the diverse and common functions that Tbx3 can perform. By either repressing or activating transcription of target genes in a context-dependent manner, Tbx3 is able to modulate differentiation of immature progenitor cells, control the rate of cell proliferation, and mediate cellular signaling pathways. Because the direct regulators of these cellular processes are highly context-dependent, it is essential that Tbx3 has the flexibility to regulate transcription of a large group of targets, but only become a active on a small cohort of them at any given time or place. Moreover, Tbx3 must be responsive to the variety of different upstream factors that are present in different tissues. Only by understanding the network of genes, proteins, and molecules with which Tbx3 interacts can we hope to understand the role that Tbx3 plays in normal development and how its aberrant expression can lead to disease. Because of its myriad functions in disparate developmental and disease contexts, Tbx3 is an ideal candidate for a systems-based approach to genetic function and interaction. WIREs Syst Biol Med 2012. doi: 10.1002/wsbm.1162For further resources related to this article, please visit the WIREs website.