A 3D view of the human prophase nucleus displaying chromosomes
Researchers from Pakistan, China, the US and the UK have collaborated to produce a 3D map of all 46 chromosomes in a human nucleus at the prophase stage - the earliest phase when a cell starts preparing for division - in a move that could generate new insights into how the human genome is organised during development and disease.
The prophase stage represents the first step in the process of mitosis, or cell division, in which the genetic material condenses into recognisable entities known as chromosomes.
The 3D map, which is accurate to the nanometre or billionth of a metre, will help researchers study changes in both the number and positioning of chromosomes during prophase that may result in the development of genetic illnesses and disorders.
“Despite years of research, we know very little about how chromosomes are positioned especially at the prophase stage of the cell cycle," says Dr Mohammed Yusuf, an assistant professor at Aga Khan University's Centre for Regenerative Medicine and Stem Cell Research , CRM. “This exciting work is a step forward not only in imaging chromosomes but also in enhancing our understanding of how the human genome is organised."
Researchers used a powerful technique, serial block-face scanning electron microscopy, to image and model all chromosomes within the architecture of a nucleus. This enabled them to produce a 'first ever' 3D-karyotype or an image of chromosomes.
“Findings from our study will contribute towards efforts to identify repositioned chromosome patterns that will aid in the development of future clinical diagnostics and treatments for diseases such as cancer," added Professor El-Nasir Lalani, founding director of the Aga Khan University's CRM.
Researchers at AKU's CRM in Karachi are currently involved in a range of innovative studies to understand disease processes and explore the potential of stem cells and tissue regeneration to cure major diseases and improve human health.
The full article jointly authored by researchers from Aga Khan University, University College London, Tongji University, University of Manchester, University of Kent and Brookhaven National Laboratory has been published in a special issue of the International Journal of Molecular Sciences.