Who has the most chromosomes? What mutations, besides Down syndrome, threaten us? Is it possible to cross a man with a monkey? And what will happen to our genome in the future? The editor of the portal ANTHROPOGENES.RU talked about chromosomes with a geneticist, head. lab. comparative genomics of the Institute of Molecular and Cellular Biology SB RAS by Vladimir Trifonov.

? Can you explain in simple language, what is a chromosome?

? A chromosome is a fragment of the genome of any organism (DNA) in complex with proteins. If in bacteria the entire genome is usually one chromosome, then in complex organisms with a pronounced nucleus (eukaryotes) the genome is usually fragmented, and complexes of long fragments of DNA and protein are clearly visible in a light microscope during cell division. That is why chromosomes as colorable structures (“chroma” - color in Greek) were described at the end of the 19th century.

? Is there any relationship between the number of chromosomes and the complexity of an organism?

? There is no connection. The Siberian sturgeon has 240 chromosomes, the sterlet has 120, but it is sometimes quite difficult to distinguish these two species from each other based on external characteristics. Female Indian muntjac have 6 chromosomes, males have 7, and their relative, the Siberian roe deer, has more than 70 (or rather, 70 chromosomes of the main set and up to a dozen additional chromosomes). In mammals, the evolution of chromosome breaks and fusions proceeded quite intensively, and now we are seeing the results of this process, when each species often has characteristic features of its karyotype (set of chromosomes). But, undoubtedly, the general increase in genome size was a necessary step in the evolution of eukaryotes. At the same time, how this genome is distributed into individual fragments does not seem to be very important.

? What are some common misconceptions about chromosomes? People often get confused: genes, chromosomes, DNA...

? Since chromosomal rearrangements do occur frequently, people have concerns about chromosomal abnormalities. It is known that an extra copy of the smallest human chromosome (chromosome 21) leads to a rather serious syndrome (Down syndrome), which has characteristic external and behavioral features. Extra or missing sex chromosomes are also quite common and can have serious consequences. However, geneticists have also described quite a few relatively neutral mutations associated with the appearance of microchromosomes, or additional X and Y chromosomes. I think the stigmatization of this phenomenon is due to the fact that people perceive the concept of normal too narrowly.

? What chromosomal mutations occur in modern man and what do they lead to?

? The most common chromosomal abnormalities ? This:

? Klinefelter syndrome (XXY men) (1 in 500) – characteristic external signs, certain health problems (anemia, osteoporosis, muscle weakness and sexual dysfunction), sterility. There may be behavioral features. However, many symptoms (except sterility) can be corrected by administering testosterone. Using modern reproductive technologies, it is possible to obtain healthy children from carriers of this syndrome;

? Down syndrome (1 in 1000) – characteristic external signs, delayed cognitive development, short life expectancy, may be fertile;

? trisomy X (XXX women) (1 in 1000) – most often there are no manifestations, fertility;

? XYY syndrome (men) (1 in 1000) – almost no manifestations, but there may be behavioral characteristics and possible reproductive problems;

? Turner syndrome (CO women) (1 in 1500) – short stature and other developmental features, normal intelligence, sterility;

? balanced translocations (1 in 1000) – depends on the type, in some cases developmental defects and mental retardation may be observed, and may affect fertility;

? small extra chromosomes (1 in 2000) – manifestation depends on the genetic material on the chromosomes and varies from neutral to serious clinical symptoms;

Pericentric inversion of chromosome 9 occurs in 1% of the human population, but this rearrangement is considered a normal variant.

Is the difference in the number of chromosomes an obstacle to crossing? Are there any interesting examples of crossing animals with different numbers of chromosomes?

? If the crossing is intraspecific or between closely related species, then the difference in the number of chromosomes may not interfere with crossing, but the descendants may turn out to be sterile. There are a lot of hybrids known between species with different numbers of chromosomes, for example, equines: there are all kinds of hybrids between horses, zebras and donkeys, and the number of chromosomes in all equines is different and, accordingly, the hybrids are often sterile. However, this does not exclude the possibility that balanced gametes may be produced by chance.

- What unusual things have been discovered recently in the field of chromosomes?

? Recently, there have been many discoveries regarding the structure, function and evolution of chromosomes. I especially like the work that showed that sex chromosomes were formed completely independently in different groups of animals.

? But still, is it possible to cross a man with a monkey?

? Theoretically, it is possible to obtain such a hybrid. Recently, hybrids of much more evolutionarily distant mammals (white and black rhinoceros, alpaca and camel, and so on) have been obtained. The red wolf in America has long been considered a separate species, but has recently been proven to be a hybrid between a wolf and a coyote. There are a huge number of feline hybrids known.

? And a completely absurd question: is it possible to cross a hamster with a duck?

? Here, most likely, nothing will work out, because too many genetic differences have accumulated over hundreds of millions of years of evolution for the carrier of such a mixed genome to function.

- Is it possible that in the future a person will have fewer or more chromosomes?

? Yes, it's quite possible. It is possible that a pair of acrocentric chromosomes will merge and such a mutation will spread throughout the population.

? What popular science literature do you recommend on the topic of human genetics? What about popular science films?

? Books by biologist Alexander Markov, the three-volume “Human Genetics” by Vogel and Motulsky (though this is not science-pop, but there is good reference data there). Nothing comes to mind from films about human genetics... But Shubin’s “Inner Fish” is an excellent film and book of the same name about the evolution of vertebrates.

Interviewed by Alexander Sokolov

From school biology textbooks, everyone has become familiar with the term chromosome. The concept was proposed by Waldeyer in 1888. It literally translates as painted body. The first object of research was the fruit fly.

General information about animal chromosomes

A chromosome is a structure in the cell nucleus that stores hereditary information. They are formed from a DNA molecule that contains many genes. In other words, a chromosome is a DNA molecule. Its amount varies among different animals. So, for example, a cat has 38, and a cow has 120. Interestingly, earthworms and ants have the smallest numbers. Their number is two chromosomes, and the male of the latter has one.

In higher animals, as well as in humans, the last pair is represented by XY sex chromosomes in males and XX in females. It should be noted that the number of these molecules is constant for all animals, but their number differs in each species. For example, we can consider the content of chromosomes in some organisms: chimpanzees - 48, crayfish - 196, wolves - 78, hare - 48. This is due to the different level of organization of a particular animal.

On a note! Chromosomes are always arranged in pairs. Geneticists claim that these molecules are the elusive and invisible carriers of heredity. Each chromosome contains many genes. Some believe that the more of these molecules, the more developed the animal, and the more complex its body is. In this case, a person should have not 46 chromosomes, but more than any other animal.

How many chromosomes do different animals have?

You need to pay attention! In monkeys, the number of chromosomes is close to that of humans. But the results are different for each species. So, different monkeys have the following number of chromosomes:

• Lemurs have 44-46 DNA molecules in their arsenal;
• Chimpanzees – 48;
• Baboons – 42,
• Monkeys – 54;
• Gibbons – 44;
• Gorillas – 48;
• Orangutan – 48;
• Macaques - 42.

The canine family (carnivorous mammals) has more chromosomes than monkeys.

• So, the wolf has 78,
• the coyote has 78,
• the small fox has 76,
• but the ordinary one has 34.
• The predatory animals lion and tiger have 38 chromosomes.
• The cat's pet has 38, while his dog opponent has almost twice as many - 78.

In mammals that are of economic importance, the number of these molecules is as follows:

• rabbit – 44,
• cow – 60,
• horse – 64,
• pig – 38.

Informative! Hamsters have the largest chromosome sets among animals. They have 92 in their arsenal. Also in this row are hedgehogs. They have 88-90 chromosomes. And kangaroos have the smallest amount of these molecules. Their number is 12. A very interesting fact is that the mammoth has 58 chromosomes. Samples were taken from frozen tissue.

For greater clarity and convenience, data from other animals will be presented in the summary.

Name of animal and number of chromosomes:

Spotted martens	12
Kangaroo	12
Yellow marsupial mouse	14
Marsupial anteater	14
Common opossum	22
Opossum	22
Mink	30
American badger	32
Corsac (steppe fox)	36
Tibetan fox	36
Small panda	36
Cat	38
a lion	38
Tiger	38
Raccoon	38
Canadian beaver	40
Hyenas	40
House mouse	40
Baboons	42
Rats	42
Dolphin	44
Rabbits	44
Human	46
Hare	48
Gorilla	48
American fox	50
striped skunk	50
Sheep	54
Elephant (Asian, savannah)	56
Cow	60
Domestic goat	60
Woolly monkey	62
Donkey	62
Giraffe	62
Mule (hybrid of a donkey and a mare)	63
Chinchilla	64
Horse	64
Gray fox	66
White-tailed deer	70
Paraguayan fox	74
Small fox	76
Wolf (red, ginger, maned)	78
Dingo	78
Coyote	78
Dog	78
Common jackal	78
Chicken	78
Pigeon	80
Turkey	82
Ecuadorian hamster	92
Common lemur	44-60
Arctic fox	48-50
Echidna	63-64
Jerzy	88-90

Number of chromosomes in different animal species

As you can see, each animal has a different number of chromosomes. Even among representatives of the same family, indicators differ. We can look at the example of primates:

• the gorilla has 48,
• the macaque has 42, and the marmoset has 54 chromosomes.

Why this is so remains a mystery.

How many chromosomes do plants have?

Plant name and number of chromosomes:

Video

​What mutations, besides Down syndrome, threaten us? Is it possible to cross a man with a monkey? And what will happen to our genome in the future? The editor of the portal ANTHROPOGENES.RU talked about chromosomes with a geneticist, head. lab. comparative genomics SB RAS Vladimir Trifonov.

− Can you explain in simple language what a chromosome is?

− A chromosome is a fragment of the genome of any organism (DNA) in complex with proteins. If in bacteria the entire genome is usually one chromosome, then in complex organisms with a pronounced nucleus (eukaryotes) the genome is usually fragmented, and complexes of long fragments of DNA and protein are clearly visible in a light microscope during cell division. That is why chromosomes as colorable structures (“chroma” - color in Greek) were described at the end of the 19th century.

− Is there any relationship between the number of chromosomes and the complexity of an organism?

- There is no connection. The Siberian sturgeon has 240 chromosomes, the sterlet has 120, but it is sometimes quite difficult to distinguish these two species from each other based on external characteristics. Female Indian muntjac have 6 chromosomes, males have 7, and their relative, the Siberian roe deer, has more than 70 (or rather, 70 chromosomes of the main set and up to a dozen additional chromosomes). In mammals, the evolution of chromosome breaks and fusions proceeded quite intensively, and now we are seeing the results of this process, when each species often has characteristic features of its karyotype (set of chromosomes). But, undoubtedly, the general increase in genome size was a necessary step in the evolution of eukaryotes. At the same time, how this genome is distributed into individual fragments does not seem to be very important.

− What are some common misconceptions about chromosomes? People often get confused: genes, chromosomes, DNA...

− Since chromosomal rearrangements do occur frequently, people have concerns about chromosomal abnormalities. It is known that an extra copy of the smallest human chromosome (chromosome 21) leads to a rather serious syndrome (Down syndrome), which has characteristic external and behavioral features. Extra or missing sex chromosomes are also quite common and can have serious consequences. However, geneticists have also described quite a few relatively neutral mutations associated with the appearance of microchromosomes, or additional X and Y chromosomes. I think the stigmatization of this phenomenon is due to the fact that people perceive the concept of normal too narrowly.

− What chromosomal mutations occur in modern humans and what do they lead to?

− The most common chromosomal abnormalities are:

− Klinefelter syndrome (XXY men) (1 in 500) – characteristic external signs, certain health problems (anemia, osteoporosis, muscle weakness and sexual dysfunction), sterility. There may be behavioral features. However, many symptoms (except sterility) can be corrected by administering testosterone. Using modern reproductive technologies, it is possible to obtain healthy children from carriers of this syndrome;

− Down syndrome (1 in 1000) – characteristic external signs, delayed cognitive development, short life expectancy, may be fertile;

− trisomy X (XXX women) (1 in 1000) – most often there are no manifestations, fertility;

− XYY syndrome (men) (1 in 1000) – almost no manifestations, but there may be behavioral characteristics and possible reproductive problems;

− Turner syndrome (women with CP) (1 in 1500) – short stature and other developmental features, normal intelligence, sterility;

− balanced translocations (1 in 1000) – depends on the type, in some cases developmental defects and mental retardation may be observed and may affect fertility;

− small additional chromosomes (1 in 2000) – the manifestation depends on the genetic material on the chromosomes and varies from neutral to serious clinical symptoms;

Pericentric inversion of chromosome 9 occurs in 1% of the human population, but this rearrangement is considered a normal variant.

Is the difference in the number of chromosomes an obstacle to crossing? Are there any interesting examples of crossing animals with different numbers of chromosomes?

− If the crossing is intraspecific or between closely related species, then the difference in the number of chromosomes may not interfere with crossing, but the descendants may turn out to be sterile. There are a lot of hybrids known between species with different numbers of chromosomes, for example, equines: there are all kinds of hybrids between horses, zebras and donkeys, and the number of chromosomes in all equines is different and, accordingly, the hybrids are often sterile. However, this does not exclude the possibility that balanced gametes may be produced by chance.

- What unusual things have been discovered recently in the field of chromosomes?

− Recently, there have been many discoveries regarding the structure, function and evolution of chromosomes. I especially like the work that showed that sex chromosomes were formed completely independently in different groups of animals.

- Still, is it possible to cross a man with a monkey?

- Theoretically, it is possible to obtain such a hybrid. Recently, hybrids of much more evolutionarily distant mammals (white and black rhinoceros, alpaca and camel, and so on) have been obtained. The red wolf in America has long been considered a separate species, but has recently been proven to be a hybrid between a wolf and a coyote. There are a huge number of feline hybrids known.

- And a completely absurd question: is it possible to cross a hamster with a duck?

- Here, most likely, nothing will work out, because too many genetic differences have accumulated over hundreds of millions of years of evolution for the carrier of such a mixed genome to function.

- Is it possible that in the future a person will have fewer or more chromosomes?

- Yes, this is quite possible. It is possible that a pair of acrocentric chromosomes will merge and such a mutation will spread throughout the population.

− What popular science literature do you recommend on the topic of human genetics? What about popular science films?

− Books by biologist Alexander Markov, the three-volume “Human Genetics” by Vogel and Motulsky (though this is not science-pop, but there is good reference data there). Nothing comes to mind from films about human genetics... But Shubin’s “Inner Fish” is an excellent film and book of the same name about the evolution of vertebrates.

Did Charles Darwin renounce his theory of human evolution at the end of his life? Did ancient people find dinosaurs? Is it true that Russia is the cradle of humanity, and who is the yeti - perhaps one of our ancestors, lost through the centuries? Although paleoanthropology - the science of human evolution - is booming, the origins of man are still surrounded by many myths. These are anti-evolutionist theories, and legends generated by mass culture, and pseudo-scientific ideas that exist among educated and well-read people. Do you want to know how everything “really” was? Alexander Sokolov, editor-in-chief of the portal ANTHROPOGENES.RU, collected a whole collection of similar myths and checked how valid they are.

At the level of everyday logic, it is obvious that “a monkey is cooler than a person - it has two more chromosomes!” Thus, “the origin of man from the ape is finally refuted”...

Let us remind our dear readers that chromosomes are the things in which DNA is packaged in our cells. Humans have 23 pairs of chromosomes (23 we got from our mom and 23 from our dad. Total is 46). The complete set of chromosomes is called a "karyotype". Each chromosome contains a very large DNA molecule, tightly coiled.

It is not the number of chromosomes that is important, but the genes that these chromosomes contain. The same set of genes can be packaged into different numbers of chromosomes.

For example, two chromosomes were taken and merged into one. The number of chromosomes has decreased, but the genetic sequence they contain remains the same. (Imagine that a wall was broken between two adjacent rooms. The result is one large room, but the contents - furniture and parquet flooring - are the same...)

The fusion of chromosomes occurred in our ancestor. This is why we have two fewer chromosomes than chimpanzees, despite the fact that the genes are almost the same.

How do we know about the similarity of human and chimpanzee genes?

In the 1970s, when biologists learned to compare the genetic sequences of different species, they did this for humans and chimpanzees. The specialists were in for a shock: “ The difference in the nucleotide sequences of the substance of heredity - DNA - in humans and chimpanzees as a whole amounted to 1.1%,– wrote the famous Soviet primatologist E.P. Friedman in the book “Primates”. -... Species of frogs or squirrels within the same genus differ from each other 20–30 times more than chimpanzees and humans. This was so surprising that it was urgently necessary to somehow explain the discrepancy between the molecular data and what is known at the level of the whole organism» .

And in 1980, in a reputable magazine Science An article by a team of geneticists at the University of Minneapolis was published: The Striking Resemblance of High-Resolution G-Banded Chromosomes of Man and Chimpanzee (“Striking similarity of high-resolution stained chromosomes of humans and chimpanzees”).

The researchers used the latest chromosome coloring methods at that time (transverse stripes of different thicknesses and brightness appear on the chromosomes; each chromosome has its own special set of stripes). It turned out that in humans and chimpanzees the chromosome striations are almost identical! But what about the extra chromosome? It’s very simple: if, opposite the second human chromosome, we put the 12th and 13th chimpanzee chromosomes in one line, connecting them at their ends, we will see that together they make up the second human chromosome.

Later, in 1991, researchers took a closer look at the point of the putative fusion on the second human chromosome and found there what they were looking for - DNA sequences characteristic of telomeres - the end sections of chromosomes. Another proof that in place of this chromosome there were once two!

But how does such a merger happen? Let's say that one of our ancestors had two chromosomes combined into one. He ended up with an odd number of chromosomes - 47, while the rest of the non-mutated individuals still had 48! And how did such a mutant then reproduce? How can individuals with different numbers of chromosomes interbreed?

It would seem that the number of chromosomes clearly distinguishes species from each other and is an insurmountable obstacle to hybridization. Imagine the surprise of the researchers when, while studying the karyotypes of various mammals, they began to discover variations in the number of chromosomes within some species! Thus, in different populations of the common shrew this figure can range from 20 to 33. And the varieties of the musk shrew, as noted in the article by P. M. Borodin, M. B. Rogacheva and S. I. Oda, “differ from each other more than humans from chimpanzees: animals living in the south of Hindustan and Sri Lanka , have 15 pairs of chromosomes in their karyotype, and all other shrews from Arabia to the islands of Oceania have 20 pairs... It turned out that the number of chromosomes decreased because five pairs of chromosomes of a typical variety merged with each other: 8th with 16th, 9? I’m from 13th, etc.”

Mystery! Let me remind you that during meiosis - cell division, which results in the formation of sex cells - each chromosome in the cell must connect with its homologue pair. And then, when fused, an unpaired chromosome appears! Where should she go?

It turns out that the problem is solved! P. M. Borodin describes this process, which he personally recorded in 29-chromosomal punares. Punare are bristly rats native to Brazil. Individuals with 29 chromosomes were obtained by crossing between 30- and 28-chromosomal punares belonging to different populations of this rodent.

During meiosis in such hybrids, paired chromosomes successfully found each other. “And the remaining three chromosomes formed a triple: on the one hand, a long chromosome received from the 28-chromosomal parent, and on the other, two shorter ones, which came from the 30-chromosomal parent. At the same time, each chromosome fell into place.”

Poor ecology, life in constant stress, priority of career over family - all this has a bad effect on a person’s ability to bear healthy offspring. Sadly, about 1% of babies born with serious chromosome abnormalities grow up mentally or physically retarded. In 30% of newborns, deviations in the karyotype lead to the formation of congenital defects. Our article is devoted to the main issues of this topic.

The main carrier of hereditary information

As is known, a chromosome is a certain nucleoprotein (consisting of a stable complex of proteins and nucleic acids) structure inside the nucleus of a eukaryotic cell (that is, those living beings whose cells have a nucleus). Its main function is the storage, transmission and implementation of genetic information. It is visible under a microscope only during processes such as meiosis (division of a double (diploid) set of chromosome genes during the creation of germ cells) and mycosis (cell division during the development of the organism).

As already mentioned, a chromosome consists of deoxyribonucleic acid (DNA) and proteins (about 63% of its mass) on which its thread is wound. Numerous studies in the field of cytogenetics (the science of chromosomes) have proven that DNA is the main carrier of heredity. It contains information that is subsequently implemented in a new organism. This is a complex of genes responsible for hair and eye color, height, number of fingers, etc. Which genes will be passed on to the child are determined at the time of conception.

Formation of the chromosome set of a healthy organism

A normal person has 23 pairs of chromosomes, each of which is responsible for a specific gene. There are 46 in total (23x2) - how many chromosomes a healthy person has. We get one chromosome from our father, the other is passed on from our mother. The exception is 23 pairs. It is responsible for the gender of a person: female is designated as XX, and male as XY. When the chromosomes are in a pair, this is a diploid set. In germ cells they are separated (haploid set) before being subsequently united during fertilization.

The set of characteristics of chromosomes (both quantitative and qualitative) examined within one cell is called a karyotype by scientists. Violations in it, depending on the nature and severity, lead to the occurrence of various diseases.

Deviations in the karyotype

When classified, all karyotype abnormalities are traditionally divided into two classes: genomic and chromosomal.

With genomic mutations, an increase in the number of the entire set of chromosomes, or the number of chromosomes in one of the pairs, is noted. The first case is called polyploidy, the second - aneuploidy.

Chromosomal abnormalities are rearrangements both within and between chromosomes. Without going into scientific jungle, they can be described as follows: some sections of chromosomes may not be present or may be doubled to the detriment of others; The sequence of genes may be disrupted, or their location may be changed. Disturbances in structure can occur in every human chromosome. Currently, the changes in each of them are described in detail.

Let us take a closer look at the most well-known and widespread genomic diseases.

Down syndrome

It was described back in 1866. For every 700 newborns, as a rule, there is one baby with a similar disease. The essence of the deviation is that a third chromosome is added to the 21st pair. This happens when the reproductive cell of one of the parents has 24 chromosomes (with double 21). The sick child ends up with 47 chromosomes – that’s how many chromosomes a Down person has. This pathology is facilitated by viral infections or ionizing radiation suffered by parents, as well as diabetes.

Children with Down syndrome are mentally retarded. Manifestations of the disease are visible even in appearance: an overly large tongue, large, irregularly shaped ears, a skin fold on the eyelid and a wide bridge of the nose, whitish spots in the eyes. Such people live on average forty years, because, among other things, they are susceptible to heart disease, problems with the intestines and stomach, and undeveloped genitals (although women may be capable of childbearing).

The older the parents, the higher the risk of having a sick child. Currently, there are technologies that make it possible to recognize chromosomal abnormalities in early stage pregnancy. Older couples need to undergo a similar test. It will not hurt young parents if one of them has had Down syndrome in their family. The mosaic form of the disease (the karyotype of some cells is damaged) is formed already at the embryonic stage and does not depend on the age of the parents.

Patau syndrome

This disorder is trisomy of the thirteenth chromosome. It occurs much less frequently than the previous syndrome we described (1 in 6000). It occurs when an extra chromosome is attached, as well as when the structure of chromosomes is disrupted and their parts are redistributed.

Patau syndrome is diagnosed by three symptoms: microphthalmos (reduced eye size), polydactyly (more fingers), cleft lip and palate.

The infant mortality rate for this disease is about 70%. Most of them do not live to be 3 years old. In individuals susceptible to this syndrome, heart and/or brain defects and problems with other internal organs (kidneys, spleen, etc.) are most often observed.

Edwards syndrome

Most babies with 3 eighteenth chromosomes die soon after birth. They have pronounced malnutrition (digestive problems that prevent the child from gaining weight). The eyes are set wide and the ears are low. Heart defects are often observed.

conclusions

To prevent the birth of a sick child, it is advisable to undergo special examinations. IN mandatory the test is indicated for women giving birth after 35 years; parents whose relatives were exposed to similar diseases; patients with thyroid problems; women who have had miscarriages.