scholarly journals Life Sciences Division and Center for Human Genome Studies 1994

1995 ◽  
Author(s):  
L.S. Cram ◽  
C. Stafford
Keyword(s):  
2021 ◽  
Vol 9 (6) ◽  
pp. 1232-1236
Author(s):  
Mohini Mohini ◽  
Sanjay Kumar Yadav ◽  
Sunita Kumari

Ayurveda is one of the most ancient life sciences it is mentioned by acharyas that it is more ancient than man because it came earlier to earth. Being a life science there is description of how life came to origin, how to live life along with the description of various diseases under various disciplines. Here by Acharya Charak and Vriddha Vagbhatta- Bija, Bijabhaga and Bijabhaga-avayava is mention as three basic components of genetics, which are responsible for inheritance of various characteristics as well as for various diseases. The human genome project started in 1990 had aimed to identified human genetic coding of DNA, so that disease associated with genetic mutation or deletion can be prevented in their acute stage like cancer, leprosy, thalassemia, etc. In the same manner Acharyas also mention various diseases associated with bija, bijabhaga, bijabhaga-avayava dusti and transferred to next progeny. In this article we highlighted over the genetic defect of Secondary sexual development. Keywords: Bija, Bijabhaga, Bijabhaga-avayava, dusti, Shukra, Shonita, etc.


2019 ◽  
Vol 63 (6) ◽  
pp. 757-771 ◽  
Author(s):  
Claire Francastel ◽  
Frédérique Magdinier

Abstract Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of methylated sites in the human genome and their methylated state is necessary for this repetitive DNA to function properly and to maintain genome integrity. Furthermore, recent advances highlight the emerging role of these sequences in regulating the functions of the human genome and its variability during evolution, among individuals, or in disease susceptibility. In addition, a number of inherited rare diseases are directly linked to the alteration of some of these repetitive DNA sequences, either through changes in the organization or size of the tandem repeat arrays or through mutations in genes encoding chromatin modifiers involved in the epigenetic regulation of these elements. Although largely overlooked so far in the functional annotation of the human genome, satellite elements play key roles in its architectural and topological organization. This includes functions as boundary elements delimitating functional domains or assembly of repressive nuclear compartments, with local or distal impact on gene expression. Thus, the consideration of satellite repeats organization and their associated epigenetic landmarks, including DNA methylation (DNAme), will become unavoidable in the near future to fully decipher human phenotypes and associated diseases.


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