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Genetics Home Reference: your guide to understanding genetic conditions
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Chromosome 15

Reviewed September 2012

What is chromosome 15?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 15, one copy inherited from each parent, form one of the pairs. Chromosome 15 spans more than 102 million DNA building blocks (base pairs) and represents more than 3 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 15 likely contains 600 to 700 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Genes on chromosome 15 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference includes these genes on chromosome 15:

  • ACAN
  • BLM
  • CA12
  • CAPN3
  • CATSPER2
  • CDAN1
  • CLN6
  • CYP19A1
  • DUOX2
  • ETFA
  • FAH
  • FBN1
  • GATM
  • HCN4
  • HEXA
  • IDH2
  • IVD
  • MAP2K1
  • MESP2
  • MYO5A
  • OCA2
  • PML
  • POLG
  • RAB27A
  • RAD51
  • RPS17
  • SLC12A1
  • SLC12A6
  • SMAD3
  • SPG11
  • SPRED1
  • STRC
  • TGM5
  • TRPM1
  • UBE3A

How are changes in chromosome 15 related to health conditions?

Many genetic conditions are related to changes in particular genes on chromosome 15. This list of disorders associated with genes on chromosome 15 provides links to additional information.

Genetics Home Reference includes these conditions related to genes on chromosome 15:

  • acral peeling skin syndrome
  • acute promyelocytic leukemia
  • Alpers-Huttenlocher syndrome
  • amyotrophic lateral sclerosis
  • Andermann syndrome
  • Angelman syndrome
  • arginine:glycine amidinotransferase deficiency
  • aromatase deficiency
  • aromatase excess syndrome
  • ataxia neuropathy spectrum
  • autosomal recessive congenital stationary night blindness
  • Bartter syndrome
  • Bloom syndrome
  • breast cancer
  • cardiofaciocutaneous syndrome
  • childhood myocerebrohepatopathy spectrum
  • congenital dyserythropoietic anemia
  • congenital hypothyroidism
  • cytogenetically normal acute myeloid leukemia
  • Diamond-Blackfan anemia
  • familial osteochondritis dissecans
  • familial thoracic aortic aneurysm and dissection
  • geleophysic dysplasia
  • glutaric acidemia type II
  • Griscelli syndrome
  • 2-hydroxyglutaric aciduria
  • isolated hyperchlorhidrosis
  • isovaleric acidemia
  • Kufs disease
  • late-infantile neuronal ceroid lipofuscinosis
  • Legius syndrome
  • limb-girdle muscular dystrophy
  • Loeys-Dietz syndrome
  • Marfan syndrome
  • myoclonic epilepsy myopathy sensory ataxia
  • nonsyndromic deafness
  • oculocutaneous albinism
  • Prader-Willi syndrome
  • primary myelofibrosis
  • progressive external ophthalmoplegia
  • sensorineural deafness and male infertility
  • Shprintzen-Goldberg syndrome
  • sick sinus syndrome
  • spastic paraplegia type 11
  • spondylocostal dysostosis
  • spondylothoracic dysostosis
  • Tay-Sachs disease
  • tyrosinemia
  • Weill-Marchesani syndrome

Changes in the structure or number of copies of a chromosome can also cause problems with health and development. The following chromosomal conditions are associated with such changes in chromosome 15.

acute promyelocytic leukemia

A type of blood cancer known as acute promyelocytic leukemia is caused by a rearrangement (translocation) of genetic material between chromosomes 15 and 17. This translocation, written as t(15;17), fuses part of the PML gene from chromosome 15 with part of the RARA gene from chromosome 17. This mutation is acquired during a person's lifetime and is present only in certain cells. This type of genetic change, called a somatic mutation, is not inherited. The t(15;17) translocation is called a balanced reciprocal translocation because the pieces of chromosome are exchanged with each other (reciprocal) and no genetic material is gained or lost (balanced). The protein produced from this fused gene is known as PML-RARα.

The PML-RARα protein functions differently than the protein products from the normal PML and RARA genes. The PML gene on chromosome 15 provides instructions for a protein that acts as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. The PML protein blocks cell growth and division (proliferation) and induces self-destruction (apoptosis) in combination with other proteins. The RARA gene on chromosome 17 provides instructions for making a transcription factor called the retinoic acid receptor alpha (RARα). A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Normally, the RARα protein controls the activity (transcription) of genes important for the maturation (differentiation) of immature white blood cells beyond a particular stage called the promyelocyte. The PML-RARα protein interferes with the normal function of both the PML and the RARα proteins. As a result, blood cells are stuck at the promyelocyte stage, and they proliferate abnormally. Excess promyelocytes accumulate in the bone marrow and normal white blood cells cannot form, leading to acute promyelocytic leukemia.

Angelman syndrome

Angelman syndrome results from a loss of gene activity (expression) in a specific part of chromosome 15 in each cell. This region is located on the long (q) arm of the chromosome and is designated 15q11-q13. This region contains a gene called UBE3A that, when mutated or absent, likely causes the characteristic neurologic features of Angelman syndrome.

People normally inherit one copy of the UBE3A gene from each parent, and both copies of this gene are turned on (active) in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother (the maternal copy) is active. This parent-specific gene activation results from a phenomenon called genomic imprinting. If the maternal copy is lost because of a chromosomal change or a gene mutation, a person will have no working copies of the UBE3A gene in some parts of the brain.

In most cases (about 70 percent), Angelman syndrome results from a deletion in the maternal copy of chromosome 15. This chromosomal change deletes the region of chromosome 15 that includes the UBE3A gene. Because the copy of the UBE3A gene inherited from a person's father (the paternal copy) is normally inactive in certain parts of the brain, a deletion in the maternal chromosome 15 leaves no active copies of the UBE3A gene in these brain regions.

In 3 percent to 7 percent of cases of Angelman syndrome, the condition results when a person inherits two copies of chromosome 15 from his or her father instead of one copy from each parent. This phenomenon is called paternal uniparental disomy (UPD). People with paternal UPD for chromosome 15 have two copies of the UBE3A gene, but they are both inherited from the father and are therefore inactive in the brain.

About 10 percent of cases of Angelman syndrome are caused by a mutation in the UBE3A gene, and another 3 percent results from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. In a small percentage of cases, Angelman syndrome is caused by a chromosomal rearrangement (translocation) or by a mutation in a gene other than UBE3A. These genetic changes abnormally inactivate the UBE3A gene.

isodicentric chromosome 15 syndrome

Isodicentric chromosome 15 syndrome results from the presence of an abnormal extra chromosome, called an isodicentric chromosome 15, in each cell. An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromosomes. In isodicentric chromosome 15 syndrome, the isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, attached end-to-end. Typically this copied genetic material includes the 15q11-q13 region.

Cells normally have two copies of each chromosome, one inherited from each parent. In people with isodicentric chromosome 15 syndrome, cells have the usual two copies of chromosome 15 plus the two extra copies of the segment of genetic material in the isodicentric chromosome. The extra genetic material disrupts the normal course of development, causing the characteristic features of this disorder. These features include weak muscle tone (hypotonia), intellectual disability, recurrent seizures (epilepsy), characteristics of autism or related developmental disorders affecting communication and social interaction, and other behavioral problems. Some individuals with isodicentric chromosome 15 whose copied genetic material does not include the 15q11-q13 region do not show signs or symptoms of the condition.

15q13.3 microdeletion

15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. Most people with a 15q13.3 microdeletion are missing a sequence of about 2 million DNA building blocks (base pairs), also written as 2 megabases (Mb). The exact size of the deleted region varies, but it typically contains at least six genes. It is unclear how a loss of these genes increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders in some individuals with a 15q13.3 microdeletion.

Other people with a 15q13.3 microdeletion have no obvious signs or symptoms related to the chromosomal change. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have an affected relative. It is unknown why 15q13.3 microdeletion causes cognitive and behavioral problems in some individuals but few or no health problems in others. Researchers believe that additional genetic or environmental factors may be involved.

15q24 microdeletion

15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. Specifically, affected individuals are missing between 1.7 Mb and 6.1 Mb of DNA at position q24 on chromosome 15. The exact size of the deletion varies, but all individuals are missing the same 1.2 Mb region. This region contains several genes that are thought to be important for normal development. It is unclear how a loss of these genes leads to intellectual disability, distinctive facial features, and other abnormalities often seen in people with a 15q24 microdeletion.

Prader-Willi syndrome

Prader-Willi syndrome is caused by a loss of active genes in a region of chromosome 15. This region is located on the long (q) arm of the chromosome and is designated 15q11-q13. It is the same part of chromosome 15 that is usually affected in people with Angelman syndrome, although different genes are associated with the two disorders. People can have either Prader-Willi syndrome or Angelman syndrome, but they typically cannot have both.

People normally inherit one copy of chromosome 15 from each parent. Some genes on this chromosome are turned on (active) only on the copy inherited from a person's father (the paternal copy). This parent-specific gene activation results from a phenomenon called genomic imprinting.

In about 70 percent of cases, Prader-Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted in each cell. A person with this chromosomal change will be missing certain critical genes in this region because the genes on the paternal copy have been deleted, and the genes on the maternal copy are turned off (inactive). Researchers are working to identify which missing genes are associated with the characteristic features of Prader-Willi syndrome.

In about 25 percent of cases, people with Prader-Willi syndrome inherit two copies of chromosome 15 from their mother instead of one copy from each parent. This phenomenon is called maternal uniparental disomy. A person with two maternal copies of chromosome 15 will have no active copies of certain genes in the 15q11-q13 region.

In a small percentage of cases, Prader-Willi syndrome is caused by a chromosomal rearrangement called a translocation. Rarely, the condition results from a mutation or other defect that abnormally inactivates genes on the paternal copy of chromosome 15.

sensorineural deafness and male infertility

Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of a particular gene on chromosome 15, STRC, is responsible for hearing loss in affected individuals. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for sperm abnormalities, which lead to an inability to father children (infertility) in affected males. Researchers are working to determine how the loss of additional genes in the deleted region affects people with sensorineural deafness and male infertility.

other chromosomal conditions

Other changes in the number or structure of chromosome 15 can cause intellectual disability, delayed growth and development, hypotonia, and characteristic facial features. These changes include an extra copy of part of chromosome 15 in each cell (partial trisomy 15), a missing segment of the chromosome in each cell (partial monosomy 15), and a circular structure called ring chromosome 15. A ring chromosome occurs when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure.

Is there a standard way to diagram chromosome 15?

Geneticists use diagrams called ideograms as a standard representation for chromosomes. Ideograms show a chromosome's relative size and its banding pattern. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope. These bands are used to describe the location of genes on each chromosome.

Ideogram of chromosome 15
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about chromosome 15?

You may find the following resources about chromosome 15 helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What glossary definitions help with understanding chromosome 15?

acute ; apoptosis ; autism ; bone marrow ; cancer ; cell ; centromere ; chromosome ; deletion ; differentiation ; disability ; DNA ; duplication ; epilepsy ; gene ; genetic testing ; His ; hypotonia ; imprinting ; infertility ; inherit ; inherited ; leukemia ; marker ; maternal ; Mb ; monosomy ; muscle tone ; mutation ; neurologic ; proliferate ; proliferation ; protein ; rearrangement ; receptor ; reciprocal translocation ; sensorineural ; somatic mutation ; sperm ; stage ; syndrome ; transcription ; transcription factor ; translocation ; trisomy ; tumor ; uniparental disomy ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

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The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2012
Published: July 21, 2014