DNM1L

Dynamin-1-like protein is a GTPase that regulates mitochondrial fission. In humans, dynamin-1-like protein, which is typically referred to as dynamin-related protein 1 (Drp1), is encoded by the DNM1L gene.

Structure

Drp1, which is a member of the dynamin superfamily of proteins, consists of a GTPase and GTPase effector domain that are separated from each other by a helical segment of amino acids. There are 3 mouse and 6 human isoforms of Drp1, including a brain-specific variant.

Function

Mitochondria routinely undergo fission and fusion events that maintain a dynamic reticular network. Drp1 is a fundamental component of mitochondrial fission. Indeed, Drp1 neurons have large, strongly interconnected mitochondria., due to dysfunctional fission machinery. Fission helps facilitate mitophagy, which is the breakdown and recycling of damaged mitochondria. Dysfunction in the DRP activity may result in mutated DNA or malfunctioning proteins diffusing throughout the mitochondrial system. In addition, fission results in fragmented mitochondria more capable of producing of reactive oxygen species, which can disrupt normal biochemical processes inside of cells. ROS can be formed from incomplete transfer of electrons through the electron transport chain. Furthermore, fission influences calcium flux within the cell, linking Drp1 to apoptosis and cancer.

Human Genome Organisation

The Human Genome Organisation (HUGO) is an organization involved in the Human Genome Project, a project about mapping the human genome. HUGO was established in 1989 as an international organization, primarily to foster collaboration between genome scientists around the world. The HUGO Gene Nomenclature Committee (HGNC), sometimes referred to as "HUGO", is one of HUGO's most active committees and aims to assign a unique gene name and symbol to each human gene.

History

HUGO was established in late April 1988 at the first meeting dedicated to genome mapping at Cold Spring Harbor. The idea of starting the organization stemmed from a South African biologist by the name of Sydney Brenner, who is known for his significant contributions to work on the genetic code and other areas of molecular biology, as well as winning the Nobel prize in Physiology of Medicine in 2002. A Founding Council was elected at the meeting that total 42 scientists from 17 different countries. HUGO is grounded in Geneva Switzerland, and later went on to elect an additional 178 members, bringing the total up to 220.