Array ( [0] => {{short description|Any chromosome other than a sex chromosome}} [1] => {{About|a type of chromosome|the ancestral discovery method using autosomal DNA|Genealogical DNA test#Geographic origin tests}} [2] => [3] => An '''autosome''' is any [[chromosome]] that is not a [[sex chromosome]].{{Cite book | last1=Griffiths | first1=Anthony J. F. | title=An Introduction to genetic analysis | year=1999 | publisher=W.H. Freeman | location=New York | isbn=978-0-7167-3771-1 | url=https://www.ncbi.nlm.nih.gov/books/bv.fcgi?highlight=autosome&rid=iga.section.222}} The members of an autosome pair in a [[diploid]] cell have the same [[Morphology (biology)|morphology]], unlike those in [[allosome|allosomal]] ([[sex chromosome]]) pairs, which may have different structures. The [[DNA]] in autosomes is collectively known as '''atDNA''' or '''auDNA'''.{{cite web|url=http://www.isogg.org/wiki/Autosomal_DNA|title=Autosomal DNA - ISOGG Wiki|website=www.isogg.org|access-date=28 April 2018|url-status=live|archive-url=https://web.archive.org/web/20170821085342/https://isogg.org/wiki/Autosomal_DNA|archive-date=21 August 2017}} [4] => [5] => For example, [[human]]s have [[Human genome|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.{{cite web|url=http://ghr.nlm.nih.gov/glossary=autosome|title=Autosome Definition(s)|website=Genetics Home Reference|access-date=28 April 2018|url-status=dead|archive-url=https://web.archive.org/web/20160102070828/http://ghr.nlm.nih.gov/glossary=autosome|archive-date=2 January 2016}} By contrast, the allosome pair consists of two [[X chromosome]]s in females or one X and one [[Y chromosome]] in males. Unusual combinations of [[XYY syndrome|XYY]], [[Klinefelter syndrome|XXY]], [[Triple X syndrome|XXX]], [[XXXX syndrome|XXXX]], [[XXXXX syndrome|XXXXX]] or [[XXYY syndrome|XXYY]], among [[Aneuploidy|other Salome combinations]],{{what|date=May 2022}} are known to occur and usually cause developmental abnormalities. [6] => [7] => 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 [[Testis determining factor|TDF]] and is vital for male sex determination during development. TDF functions by activating the [[SOX9]] gene on [[Chromosome 17 (human)|chromosome 17]], so mutations of the [[SOX9]] gene can cause humans with an ordinary Y chromosome to develop as females.{{cite journal | vauthors = Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN | title = Complicate dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene | journal = Nature | volume = 372 | issue = 6506 | pages = 525–30 | date = December 1994 | pmid = 7990924 | doi = 10.1038/372525a0 | bibcode = 1994Natur.372..525F | s2cid = 1472426 }} [8] => [9] => 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 stain|Giemsa]]).{{Cite web |title=Chromosome mapping Facts, information, pictures |series=Encyclopedia.com articles about Chromosome mapping |url=http://www.encyclopedia.com/topic/Chromosome_mapping.aspx |website=encyclopedia.com |access-date=2015-12-04 |url-status=live |archive-url=https://web.archive.org/web/20151210220706/http://www.encyclopedia.com/topic/Chromosome_mapping.aspx |archive-date=2015-12-10 |df=dmy-all}} These chromosomes are typically viewed as [[karyogram]]s for easy comparison. Clinical geneticists can compare the karyogram of an individual to a reference karyogram to discover the cytogenetic basis of certain [[phenotype]]s. For example, the karyogram of someone with [[Patau syndrome|Patau Syndrome]] would show that they possess three copies of [[Chromosome 13 (human)|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.{{cite book |vauthors=Nussbaum RL, McInnes RR, Willard HF, Hamosh A, Thompson MW |year=2007 |title=Thompson & Thompson Genetics in Medicine |url=https://archive.org/details/thompsonthompson00nuss |url-access=limited |edition=7th |page=[https://archive.org/details/thompsonthompson00nuss/page/n68 69] |location=Philadelphia, PA |publisher=Saunders/Elsevier|isbn=9781416030805 }} [10] => [11] => {| class="wikitable" style="width: 75%; margin: 1em auto 1em auto;" [12] => |- [13] => ! colspan="2"|[[Karyotype]] of human chromosomes [14] => |- [15] => |align="center"|Female (XX) [16] => |align="center"|Male (XY) [17] => |- [18] => |[[Image:PLoSBiol3.5.Fig7ChromosomesAluFish.jpg|420px|center]] [19] => |[[File:Human male karyotype.gif|331px|center]] [20] => |- [21] => | colspan="2"|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. [22] => |} [23] => [24] => == Autosomal genetic disorders == [25] => [[File:Autosomal recessive inheritance.gif|thumb|An illustration of the inheritance pattern and phenotypic effects of an autosomal recessive gene.]] [26] => 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.{{Cite web|title = human genetic disease|url = https://www.britannica.com/science/human-genetic-disease|website = Encyclopædia Britannica|access-date = 2015-10-16|url-status = live|archive-url = https://web.archive.org/web/20151013183225/https://www.britannica.com/science/human-genetic-disease|archive-date = 2015-10-13}}{{cite journal |last1=Chial |first1=Heidi |year=2008 |title=Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders |journal=Nature Education |volume=1 |issue=1 |page=63 |url=https://www.nature.com/scitable/topicpage/mendelian-genetics-patterns-of-inheritance-and-single-966/ }} 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 [[heterozygote]]s) for the condition. [27] => [28] => 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 (human)|chromosome 1]]—never survive to term,{{Cite book|publisher = Humana Press|date = 2005-01-01|isbn = 978-1-58829-300-8|pages = 133–164|first1 = Jin-Chen C.|last1 = Wang|editor-first = Steven L.|editor-last = Gersen|editor-first2 = Martha B. Keagle|editor-last2 = MEd|doi = 10.1385/1-59259-833-1:133|title = The Principles of Clinical Cytogenetics|chapter = Autosomal Aneuploidy}} and fetuses with aneuploidy of gene-poor chromosomes—such as [[Chromosome 21 (human)|chromosome 21]]— are still miscarried over 23% of the time.{{cite journal |last1=Savva |first1=George M. |last2=Morris |first2=Joan K. |last3=Mutton |first3=David E. |last4=Alberman |first4=Eva |title=Maternal age-specific fetal loss rates in Down syndrome pregnancies |journal=Prenatal Diagnosis |date=June 2006 |volume=26 |issue=6 |pages=499–504 |doi=10.1002/pd.1443 |pmid=16634111 |s2cid=34154717 }} 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 (human)|chromosome 21]] instead of the usual two. [29] => [30] => Partial aneuploidy can also occur as a result of [[Chromosomal translocation|unbalanced translocations]] during meiosis.{{Cite web|title = Translocation - Glossary Entry|url = http://ghr.nlm.nih.gov/glossary=translocation|website = Genetics Home Reference|date = 2015-11-02|access-date = 2015-11-08|url-status = live|archive-url = https://web.archive.org/web/20151209181233/http://ghr.nlm.nih.gov/glossary=translocation|archive-date = 2015-12-09}} 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]].{{cite journal |last1=Strefford |first1=Jonathan C. |last2=An |first2=Qian |last3=Harrison |first3=Christine J. |title=Modeling the molecular consequences of unbalanced translocations in cancer: Lessons from acute lymphoblastic leukemia |journal=Cell Cycle |date=31 October 2014 |volume=8 |issue=14 |pages=2175–2184 |doi=10.4161/cc.8.14.9103 |pmid=19556891 |doi-access=free }}{{cite journal |last1=Klar |first1=Amar J S |title=The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorders |journal=Genetics |date=2002 |volume=160 |issue=4 |pages=1745–1747 |doi=10.1093/genetics/160.4.1745 |pmid=11973326 |pmc=1462039 }} Unlike single gene disorders, diseases caused by aneuploidy are the result of improper [[gene dosage]], not nonfunctional gene product.{{cite journal |last1=Disteche |first1=Christine M. |title=Dosage Compensation of the Sex Chromosomes |journal=Annual Review of Genetics |date=15 December 2012 |volume=46 |issue=1 |pages=537–560 |doi=10.1146/annurev-genet-110711-155454 |pmid=22974302 |pmc=3767307 }} [31] => [32] => ==See also== [33] => * [[Aneuploidy]] (abnormal number of chromosomes) [34] => * [[Autosomal dominant]] [35] => * [[Autosomal recessive]] [36] => * [[Homologous chromosome]] [37] => * [[Pseudoautosomal region]] [38] => * [[XY sex-determination system]] [39] => *[[Genetic disorder]] [40] => [41] => ==References== [42] => {{Reflist}} [43] => [44] => {{chromo}} [45] => {{Chromosomes}} [46] => [47] => [[Category:Chromosomes]] [48] => [[Category:Cytogenetics]] [] => )
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Autosome

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 allosomal (sex chromosome) pairs, which may have different structures.

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