Article Writer- Minakshi Kumari, MSc. Biotechnology, RCA, Maharana Pratap University of Agriculture and Technology, Udaipur, Rajsthan(India)
Humans possess either two X- Chromosome (Female) or one X and one Y- Chromosome (Male). Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institute of Health (NIH), have produced complete X-chromosome with a lack of some repetitive DNA sequences. In this study, researchers chose a special type of cell, having two identical X-Chromosome. Such a cell provided more DNA for sequencing than a male cell and avoids sequence difference appeared during analyzing it.
Scientists, instead of breaking DNA into small sequences and then sequencing it, they went for a method which generates very long DNA sequences and used newly developed computer programs to assemble it.
“The ability to generate truly complete sequences of chromosomes and genomes is a technical feat that will help us gain a comprehensive understanding of genome function and inform the use of genomic information in medical care”, said Eric Green, M.D., Ph.D., NHGRI director.
Miga, K.H., Koren, S., Rhie, A. et al. Telomere-to-telomere assembly of a complete human X chromosome. Nature (2020). https://doi.org/10.1038/s41586-020-2547-7