Human genome how many chromosomes




















Each of these approaches can identify sequences within the genome that have some sort of biochemical activity, and to add to the usefulness of this project, the labs conducted these techniques in multiple cell types in order to account for natural variability.

So what did they ultimately find? Many scientists already suspected this, but with ENCODE, we now have a large, standardized data set that can be used by individual labs to probe these potentially functional areas. Likewise, because it was such a large project with strict quality controls, we can be sure that the data are reproducible and reliable. Although the main benefits stemming from this project may not be realized for some years similar to the Human Genome Project , at the moment there are already some areas where this enormous data set will be useful.

There are a host of diseases that seem to be associated with genetic mutations; however, many of the mutations that have been discovered are not within actual genes, which makes it difficult to understand what functional changes the mutations cause. Using the data from the ENCODE project, researchers will be able to hone in on the disease-causing mutations more quickly, since they can now associate the mutations with functional sequences found in the ENCODE database.

By matching these two, researchers and doctors should be able to start understanding why a particular mutation causes a disease, which will help with the development of appropriate therapies. Though the ENCODE project was a remarkable feat of scientific collaboration, there is still controversy surrounding the project [5, 6, 7]. Some biologists have also voiced their concerns regarding how the results of the project were presented to the public, both in terms of the hype surrounding the project and the results themselves.

Because of the expense and complexity of these types of studies, it is important for scientists to present an impartial perspective. The need for careful presentation to the public was demonstrated by the hype surrounding a recent paper published by NASA scientists on bacteria that could use arsenic in a way that had never been observed before. After announcing that they had discovered something new and exciting, even to the point of calling a press conference, the self-generated hype eventually imploded after the findings were ultimately refuted [].

As with any new large-scale project, both scientists and the public must be patient in assigning value until the true benefits of the project can be realized. As others have noted, just because a given DNA sequence binds protein or is associated with some chemical modification does not necessarily mean that it is functional or serves a useful role. Many protein binding events are random and inconsequential. It is also crucial that reproductive cells, such as eggs and sperm, contain the right number of chromosomes and that those chromosomes have the correct structure.

If not, the resulting offspring may fail to develop properly. For example, people with Down syndrome have three copies of chromosome 21, instead of the two copies found in other people.

Chromosomes vary in number and shape among living things. Most bacteria have one or two circular chromosomes. Humans, along with other animals and plants, have linear chromosomes that are arranged in pairs within the nucleus of the cell.

The only human cells that do not contain pairs of chromosomes are reproductive cells, or gametes, which carry just one copy of each chromosome. When two reproductive cells unite, they become a single cell that contains two copies of each chromosome. This cell then divides and its successors divide numerous times, eventually producing a mature individual with a full set of paired chromosomes in virtually all of its cells. Besides the linear chromosomes found in the nucleus, the cells of humans and other complex organisms carry a much smaller type of chromosome similar to those seen in bacteria.

This circular chromosome is found in mitochondria, which are structures located outside the nucleus that serve as the cell's powerhouses. Scientists think that, in the past, mitochondria were free-living bacteria with the ability to convert oxygen into energy. When these bacteria invaded cells lacking the power to tap into oxygen's power, the cells retained them, and, over time, the bacteria evolved into modern-day mitochondria.

The constricted region of linear chromosomes is known as the centromere. Although this constriction is called the centromere, it usually is not located exactly in the center of the chromosome and, in some cases, is located almost at the chromosome's end.

The regions on either side of the centromere are referred to as the chromosome's arms. Centromeres help to keep chromosomes properly aligned during the complex process of cell division. As chromosomes are copied in preparation for production of a new cell, the centromere serves as an attachment site for the two halves of each replicated chromosome, known as sister chromatids.

There are 24 distinct human chromosomes: 22 autosomal chromosomes, plus the sex-determining X and Y chromosomes. Somatic cells usually have one copy of chromosomes from each parent, plus an X chromosome from the mother, and either an X or Y chromosome from the father, for a total of The estimate of the number of human genes has been repeatedly revised down from initial predictions of , or more as genome sequence quality and gene finding methods have improved, and could continue to drop further.

Reference Terms. The human genome is the genome of Homo sapiens. It is made up of 23 chromosome pairs with a total of about 3 billion DNA base pairs. The role of centromere sequences, like many other repeating regions, is not yet fully understood, but they are most classically known as the key to cell division. When a cell divides in two, a protein spindle attaches to the centromeres, yanking the chromosomes apart to make sure that each cell gets the right number.

When this goes wrong in eggs or sperm, babies can be born with chromosomal anomalies such as Down syndrome or Turner syndrome. When it goes wrong in other parts of the body, we can end up with blood cells, for example, that have too many or too few chromosomes.

Examining the sequences in those regions might yield new clues to chromosomal anomalies. The repeat-rich short arms of the chromosomes are similarly mysterious. They definitely play some role in the cellular machinery that translates genes into proteins, and knowing their sequences could shed more light on that function. As impressive as the technical feat of sequencing a complete human genome is, scientists told me that one genome is only one snapshot.

Seeing how these repeating regions change over time from person to person, species to species, will be far more interesting. What happens in development?

What happens if you compare offspring to parents? The consortium proved that these repeating regions are sequenceable with the new long-read technologies. Now they can be applied to more genomes, allowing scientists to compare one with another. Indeed, Miga says that the ultimate dream is to make every genome that scientists attempt to sequence complete from end to end, telomere to telomere.



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