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.[3] 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, XXXXXorXXYY, among other Salome combinations,[clarification needed] 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.[4]
All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in metaphaseorprometaphase and then staining them with a type of dye (most commonly, Giemsa).[5] 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.[6]
There are two copies of each autosome (chromosomes 1–22) in both females and males. The sex chromosomes are different: There are two copies of the X-chromosome in females, but males have a single X-chromosome and a Y-chromosome.
An illustration of the inheritance pattern and phenotypic effects of an autosomal recessive gene.
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.[7] These disorders manifest in and are passed on by either sex with equal frequency.[7][8] 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,[9] and fetuses with aneuploidy of gene-poor chromosomes—such as chromosome 21— are still miscarried over 23% of the time.[10] 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.[9]
Partial aneuploidy can also occur as a result of unbalanced translocations during meiosis.[11] 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 cancertoschizophrenia.[12][13] Unlike single gene disorders, diseases caused by aneuploidy are the result of improper gene dosage, not nonfunctional gene product.[14]
^ abWang, Jin-Chen C. (2005-01-01). "Autosomal Aneuploidy". In Gersen, Steven L.; MEd, Martha B. Keagle (eds.). The Principles of Clinical Cytogenetics. Humana Press. pp. 133–164. doi:10.1385/1-59259-833-1:133. ISBN978-1-58829-300-8.
^Savva, George M.; Morris, Joan K.; Mutton, David E.; Alberman, Eva (June 2006). "Maternal age-specific fetal loss rates in Down syndrome pregnancies". Prenatal Diagnosis. 26 (6): 499–504. doi:10.1002/pd.1443. PMID16634111. S2CID34154717.
