Topic: Autosomes

An autosome is any chromosome that is not a sex chromosome. The members of an autosome
pair in a diploid cell have the same morphology, unlike those in allosome pairs which may
have different structures. The DNA in autosomes is collectively known as atDNA or
auDNA.For example, humans have a diploid genome that usually contains 22 pairs of
autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled
with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes
are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes
in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY,
XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur
and usually cause developmental abnormalities.

Autosomes still contain sexual determination genes even though they are not sex
chromosomes. For example, the SRY gene on the Y chromosome encodes the transcription
factor TDF and is vital for male sex determination during development. TDF functions by
activating the SOX9 gene on chromosome 17, so mutations of the SOX9 gene can cause
humans with an ordinary Y chromosome to develop as females.All human autosomes have
been identified and mapped by extracting the chromosomes from a cell arrested in metaphase
or prometaphase and then staining them with a type of dye (most commonly, Giemsa). These
chromosomes are typically viewed as karyograms for easy comparison. Clinical geneticists
can compare the karyogram of an individual to a reference karyogram to discover the
cytogenetic basis of certain phenotypes. For example, the karyogram of someone with Patau
Syndrome would show that they possess three copies of chromosome 13. Karyograms and
staining techniques can only detect large-scale disruptions to chromosomes—chromosomal
aberrations smaller than a few million base pairs generally cannot be seen on a karyogram.

Autosomal genetic disorders

Autosomal genetic disorders can arise due to a number of causes, some of the most common
being nondisjunction in parental germ cells or Mendelian inheritance of deleterious alleles
from parents. Autosomal genetic disorders which exhibit Mendelian inheritance can be
inherited either in an autosomal dominant or recessive fashion. These disorders manifest in
and are passed on by either sex with equal frequency. Autosomal dominant disorders are
often present in both parent and child, as the child needs to inherit only one copy of the
deleterious allele to manifest the disease. Autosomal recessive diseases, however, require two
copies of the deleterious allele for the disease to manifest. Because it is possible to possess
one copy of a deleterious allele without presenting a disease phenotype, two phenotypically
normal parents can have a child with the disease if both parents are carriers (also known as
heterozygotes) for the condition.

Autosomal aneuploidy can also result in disease conditions. Aneuploidy of autosomes is not
well tolerated and usually results in miscarriage of the developing fetus. Fetuses with
aneuploidy of gene-rich chromosomes—such as chromosome 1—never survive to term, and
fetuses with aneuploidy of gene-poor chromosomes—such as chromosome 21— are still
miscarried over 23% of the time. Possessing a single copy of an autosome (known as a
monosomy) is nearly always incompatible with life, though very rarely some monosomies
can survive past birth. Having three copies of an autosome (known as a trisomy) is far more
compatible with life, however. A common example is Down syndrome, which is caused by
possessing three copies of chromosome 21 instead of the usual two.Partial aneuploidy can
also occur as a result of unbalanced translocations during meiosis. Deletions of part of a
chromosome cause partial monosomies, while duplications can cause partial trisomies. If the
duplication or deletion is large enough, it can be discovered by analyzing a karyogram of the
individual. Autosomal translocations can be responsible for a number of diseases, ranging
from cancer to schizophrenia. Unlike single gene disorders, diseases caused by aneuploidy
are the result of improper gene dosage, not nonfunctional gene product.

See also
Aneuploidy (abnormal number of chromosomes)

Autosomal dominant

Autosomal recessive

Homologous chromosome

Pseudoautosomal region

XY sex-determination system

Genetic disorder

References