Chromosome 1

Description

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies
of chromosome 1, one copy inherited from each parent, form one of the pairs.
Chromosome 1 is the largest human chromosome, spanning about 249 million DNA
building blocks (base pairs) and representing approximately 8 percent of the total DNA
in cells.

Identifying the 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 1 likely contains 2,
000 to 2,100 genes that provide instructions for making proteins. These proteins
perform a variety of different roles in the body.

Health Conditions Related to Chromosomal Changes

The following chromosomal conditions are associated with changes in the structure or
number of copies of chromosome 1.

1p36 deletion syndrome

1p36 deletion syndrome is caused by a deletion of genetic material from a specific

region in the short (p) arm of chromosome 1. The signs and symptoms of this disorder
include intellectual disabilities, distinctive facial features, and structural abnormalities in
several body systems. In about 50 percent of people with this condition, the deleted
region includes the tip of the p arm of chromosome 1. The size of the deletion varies
among affected individuals. .cf0{font-style:italic;font-family:Segoe UI;font-size:9pt;}The
signs and symptoms of 1p36 deletion syndrome are likely caused by the loss of multiple
genes that are involved in the development of systems such as the brain, heart, and
skeleton.

1q21.1 microdeletion

1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q)
arm of chromosome 1 is deleted in each cell. Most commonly, affected individuals are
missing about 1.35 million base pairs, also written as 1.35 megabases (Mb), in the q21.
1 region. However, the exact size of the deleted region varies. The loss of multiple
genes from this region probably contributes to the various signs and symptoms that are

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associated with a 1q21.1 microdeletion. Related features can include delayed
development, intellectual disabilities, physical abnormalities, and neurological and
psychiatric problems; however, some individuals with a 1q21.1 microdeletion have no
obvious signs or symptoms.

1q21.1 microduplication

A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at

position q21.1 on one of the two copies of chromosome 1 in each cell. Some people
with a 1q21.1 microduplication have developmental delays, intellectual disabilities, or
features of autism spectrum disorder, which ischaracterized by impaired communication
and socialization skills. Affected individuals may also have psychiatric disorders, such
as schizophrenia; malformations of the heart; or other neurological or physical features.
Other individuals with 1q21.1 microduplications have no identified physical, intellectual,
or behavioral problems.

1q21.1 microduplications usually involve the same segment of about 1.35 million base
pairs that is missing in people with 1q21.1 microdeletions (described above). In other
cases, individuals have a shorter or longer duplicated segment within the q21.1 region
of chromosome 1. Extra copies of genes in the duplicated segment likely contribute to
the signs and symptoms that occur in some individuals with 1q21.1 microduplications.

Because some people with a 1q21.1 microduplication have no apparent features of the
condition, additional genetic or environmental factors are thought to be involved in the
development of signs and symptoms.

Neuroblastoma

Deletions in the 1p36 region of chromosome 1 have also been associated with another
condition called neuroblastoma. Neuroblastoma is a type of cancerous tumor composed
of immature nerve cells (neuroblasts). These deletions are somatic variants (also called
mutations), which means they occur during a person's lifetime and are present only in
the cells that become cancerous.

About 25 percent of people with neuroblastoma have a more severe form of the
condition that is caused by the deletion of 1p36.1-1p36.3. Researchers believe the
deleted region could contain a gene called a tumor suppressor gene that keeps cells
from growing and dividing too quickly or in an uncontrolled way. When tumor
suppressor genes are deleted, cancer can occur.

Thrombocytopenia-absent radius syndrome

A deletion in the 1q21.1 region of chromosome 1 is involved in most cases of

thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized by
the absence of a bone called the radius in each forearm and a shortage (deficiency) of
blood cells that are involved in clotting (platelets).

The deletion in chromosome 1 that is associated with TAR syndrome eliminates at least
200,000 DNA base pairs (200 kilobases, or 200 kb) from the q arm of the chromosome,

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including a gene called RBM8A. Most people with TAR syndrome have the deletion in
one copy of chromosome 1, which removes one copy of the RBM8A gene, and a variant
in the other copy of the RBM8A gene in each cell. The RBM8A gene provides
instructions for making a protein called RNA-binding motif protein 8A. This protein is
believed to be involved in a number of important cellular functions that produce other
proteins.

The RBM8A gene variants that cause TAR syndrome reduce the amount of RNA-
binding motif protein 8A in cells. The deletion on chromosome 1 eliminates one copy of
the RBM8A gene in each cell and the RNA-binding motif protein 8A that would have
been produced from it. The reduced amount of RNA-binding motif protein 8A is thought
to cause problems in the development of certain tissues, but it is unknown how it
causes the specific signs and symptoms of TAR syndrome. .cf0{font-style:italic;font-
family:Segoe UI;font-size:9pt;}No cases have been reported in which individuals have
deletions that remove both copies of the RBM8A gene; studies indicate that the
complete loss of RNA-binding motif protein 8A is not compatible with life.

Researchers sometimes refer to the deletion in chromosome 1 that is associated with

TAR syndrome as the 200-kb deletion to distinguish it from another chromosomal
abnormality called a 1q21.1 microdeletion (described above). People with a 1q21.1
microdeletion are missing a different, larger DNA segment in the chromosome 1q21.1
region near the area where the 200-kb deletion occurs.

Other chromosomal conditions

Other changes in the structure or number of copies of chromosome 1 can have a variety
of effects, including delayed growth and development, distinctive facial features, birth
defects, and other health problems. Changes to chromosome 1 may include an extra
segment of the p or q arm of the chromosome in each cell (partial trisomy 1p or 1q), a
missing segment of the short or long arm of the chromosome in each cell (partial
monosomy 1p or 1q), or a circular structure called ring chromosome 1. Ring
chromosomes occur when a chromosome breaks in two places and the ends of the
chromosome arms fuse together to form a circular structure.

Other cancers

Somatic changes in the structure of chromosome 1 are associated with other forms of
cancer and conditions related to cancer.

Deletions in the p arm of the chromosome have been identified in tumors of the brain
and kidney. Duplications in the q arm of the chromosome have been reported in people
with a disorder called myelodysplastic syndrome, which is a disease of the blood and
bone marrow. People with this condition have a low number of red blood cells (anemia)
and an increased risk of developing leukemia.

Additional Information & Resources

Additional NIH Resources

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• National Human Genome Research Institute: Chromosome Abnormalities (https://w
ww.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Shee
t)

Scientific Articles on PubMed

• PubMed (https://pubmed.ncbi.nlm.nih.gov/?term=%28Chromosomes,+Human,+Pair
+1%5BMAJR%5D%29+AND+%28Chromosome+1%5BTI%5D%29+AND+english%
5Bla%5D+AND+human%5Bmh%5D+AND+%22last+720+days%22%5Bdp%5D)

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Last updated March 15, 2024

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