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Autosome

An autosome is any chromosome that is not a sex chromosome (X or Y), and it carries genetic information unrelated to the determination of biological sex.^[1] In humans, there are 22 pairs of autosomes, making up 44 of the total 46 chromosomes in most somatic cells, with the remaining pair consisting of sex chromosomes (XX in females and XY in males).^[2] These autosomes are numbered from 1 to 22 in descending order of size, though chromosome 21 is an exception as it is slightly smaller than chromosome 22.^[1] Autosomes play a central role in inheritance patterns, as genes located on them follow Mendelian principles and are transmitted equally to offspring regardless of the parent's sex.^[3] Traits or disorders encoded by autosomal genes can exhibit dominant or recessive inheritance; for instance, in autosomal dominant conditions, a single mutated copy of the gene from one parent is sufficient to cause the phenotype, affecting males and females equally.^[4] Conversely, autosomal recessive disorders require two mutated copies, one from each parent, and carriers with a single copy typically show no symptoms. The autosomes collectively house the majority of the human genome's approximately 19,000–20,000 protein-coding genes, influencing a wide array of physiological processes from metabolism to structural development.^[1]^[5] Unlike sex chromosomes, which determine sex and exhibit unique inheritance (e.g., Y-linked traits passed only from fathers to sons), autosomes ensure balanced genetic contribution from both parents in every generation.^[6] Abnormalities in autosomes, such as aneuploidy (extra or missing chromosomes), can lead to significant health issues; examples include trisomy 21 (Down syndrome) on chromosome 21 and trisomy 18 (Edwards syndrome).^[2] Research into autosomes has advanced fields like genomics, enabling the mapping of disease-associated genes and the development of targeted therapies through projects like the Human Genome Project.^[1]

Definition and Basics

Definition

An autosome is any chromosome that is not a sex chromosome (also known as an allosome).^[1] These chromosomes carry genes that determine traits unrelated to an organism's sex, such as physical characteristics and metabolic functions.^[7] In contrast, sex chromosomes, such as the X and Y in humans, primarily influence sex determination and related traits.^[1] In diploid organisms, which possess two complete sets of chromosomes, autosomes occur in homologous pairs—one inherited from each parent.^[7] Each pair consists of two chromosomes of similar size, shape, and genetic content, ensuring balanced genetic contribution during reproduction.^[8] These pairs encode genes responsible for somatic (body cell) traits, supporting essential biological processes like growth, development, and maintenance.^[9] The term "autosome" was introduced in 1901 by American zoologist Thomas Harrington Montgomery, Jr., in his work "The terminology of aberrant chromosomes and their behavior in the germ line of Orthoptera".^[10] In humans, a diploid species, there are 22 pairs of autosomes, totaling 44 individual chromosomes, alongside one pair of sex chromosomes.^[1] This configuration forms the basis of the human karyotype, where autosomes are numbered from 1 to 22 based on decreasing size.^[2]

Characteristics in Humans

In humans, the typical karyotype consists of 46 chromosomes arranged in 23 pairs, of which 22 pairs are autosomes numbered from 1 to 22 in descending order of size, with the remaining pair comprising the sex chromosomes (XX in females or XY in males).^[1]^[11] Chromosome 1, the largest autosome, spans approximately 249 million base pairs, while the smallest, chromosome 22, is about 50 million base pairs long.^[12] The position of the centromere, which plays a key role in chromosome segregation during cell division, varies among human autosomes and classifies them into metacentric, submetacentric, and acrocentric types, with no telocentric chromosomes present. Metacentric autosomes, where the centromere is centrally located, include chromosomes 1, 3, 16, 19, and 20. Submetacentric chromosomes, featuring a centromere slightly off-center, encompass the rest, such as chromosomes 2, 4, 5, 6, 7, 8, 9, 10, 11, 12, 17, and 18. Acrocentric autosomes, characterized by a centromere near one end and short arms often containing ribosomal DNA, are chromosomes 13, 14, 15, 21, and 22.^[13]^[14] Gene density across autosomes is uneven, reflecting variations in chromosome length and functional organization, with chromosome 19 exhibiting the highest density at approximately 25 genes per megabase, more than three times the genome-wide average of about 6-8 genes per megabase. This small chromosome (approximately 56 million base pairs) contains about 1,461 protein-coding genes, contributing to its enrichment in metabolically important loci.^[15]^[16] In contrast, the largest autosome, chromosome 1, harbors the highest absolute number of genes, around 2,000-2,100, despite a lower density due to its size. Overall, the 22 autosomes encode roughly 18,500 protein-coding genes (as of 2025), accounting for the vast majority of the human genome's approximately 19,400 such genes.^[12]^[5]^[17]^[18]

Structure and Function

Chromosomal Composition

Autosomes consist of linear DNA molecules wrapped around histone proteins, forming a chromatin complex that compacts and organizes the genetic material within eukaryotic cells.^[19] This chromatin structure exists in two primary states: euchromatin, which is relatively decondensed and gene-rich to facilitate access for transcriptional machinery, and heterochromatin, which is densely packed and gene-poor, typically restricting gene expression.^[20] For microscopic visualization and identification, autosomes are stained using techniques like G-banding, which employs Giemsa dye after trypsin treatment to produce alternating dark and light bands reflecting AT-rich and GC-rich regions, respectively, and R-banding, achieved through heat or acridine orange staining for reverse patterns.^[21] These methods resolve approximately 400 to 800 bands per haploid set, enabling detailed karyotype analysis and detection of structural abnormalities.^[22] At the ends of autosomes, telomeres function as protective caps composed of tandem TTAGGG repeats that shield chromosome termini from enzymatic degradation and end-to-end fusions during replication.^[23] Centromeres, located near the center, provide attachment sites for kinetochore proteins and mitotic spindle fibers, ensuring accurate chromosome alignment and segregation during cell division.^[24] In humans, the 22 pairs of autosomes exhibit a wide size range, from the largest, chromosome 1 with about 249 million base pairs, to the smallest, chromosome 22 with roughly 49 million base pairs, influencing their packaging and functional density.^[25]

Role in Genetic Expression

Autosomal genes, which constitute the majority of the human genome on chromosomes 1 through 22, undergo transcription to produce messenger RNA (mRNA) that serves as a template for protein synthesis during translation.^[26] This process begins with RNA polymerase binding to promoter regions on autosomal DNA, transcribing genetic information into pre-mRNA, which is then processed into mature mRNA and transported to ribosomes in the cytoplasm for translation into proteins essential for cellular functions, metabolic pathways, and developmental processes.^[27] For instance, autosomal genes encode enzymes like those involved in glycolysis and structural proteins such as collagen, enabling organismal growth and maintenance. Epigenetic modifications on autosomes provide an additional layer of regulation, influencing gene expression without changing the underlying DNA sequence. DNA methylation, typically occurring at cytosine residues in CpG islands within gene promoters, represses transcription by inhibiting transcription factor binding and recruiting repressive protein complexes, thereby silencing autosomal genes during development or in response to environmental cues.^[28] Complementing this, histone acetylation—where acetyl groups are added to lysine residues on histone tails—relaxes chromatin structure, promoting an open configuration that facilitates access by transcriptional machinery and enhances expression of autosomal genes involved in cellular differentiation.^[29] These modifications, such as those observed in histone H3K9 acetylation, dynamically balance gene activation and repression across autosomes to maintain homeostasis.^[30] Many complex traits arise from the interaction of multiple autosomal genes, a phenomenon known as polygenic inheritance, where additive effects and epistasis contribute to phenotypic variation. For example, human height is influenced by numerous quantitative trait loci (QTLs) on autosomes, with variants in genes like HMGA2 and GH1 collectively accounting for a significant portion of stature differences. Similarly, skin color results from polygenic control by autosomal loci such as SLC24A5 and TYR, which regulate melanin production and lead to a continuum of pigmentation shades across populations. This multifactorial expression underscores how autosomal gene networks integrate to produce continuous, quantitative phenotypes rather than discrete Mendelian categories.^[31] During meiosis, crossing over between homologous autosomes introduces genetic diversity by exchanging segments of DNA, which reshuffles alleles and creates novel combinations in gametes. This recombination occurs primarily in prophase I, where double-strand breaks are repaired via homologous recombination, resulting in chiasmata that ensure proper chromosome segregation and amplify allelic variation across autosomal loci.^[32] Seminal studies have shown that the average number of crossovers per autosomal pair in humans ranges from 1 to 3, contributing substantially to the genetic diversity observed in offspring.^[33] By linking distant genes and breaking linkage disequilibrium, meiotic recombination on autosomes enhances adaptability and evolutionary potential.^[34]

Inheritance Patterns

Autosomal Dominant Inheritance

Autosomal dominant inheritance refers to the transmission of genetic traits or disorders caused by a mutation in one of the autosomal chromosomes, where a single copy of the mutant allele is sufficient to produce the observable phenotype in heterozygous individuals. This follows Mendel's Law of Dominance, as the dominant allele masks the effect of the normal recessive allele on the homologous chromosome.^[35] The mechanism typically involves gain-of-function, dominant-negative, or haploinsufficiency effects of the mutant allele, leading to altered protein function or dosage that disrupts normal cellular processes.^[35] In terms of transmission, an affected individual who is heterozygous for the mutation has a 50% chance of passing the mutant allele to each offspring, regardless of the child's sex, assuming the other parent is unaffected and homozygous normal.^[35] Pedigree analysis of autosomal dominant traits characteristically shows vertical transmission through multiple generations, with affected individuals having at least one affected parent, and no skipping of generations unless due to reduced penetrance or de novo mutations.^[36] Males and females are equally affected, and the trait can appear in every generation of a family.^[36] The expression of autosomal dominant traits can vary due to penetrance and expressivity. Penetrance represents the proportion of individuals carrying the genotype who exhibit the phenotype; it can be complete (near 100%) or reduced, such as approximately 80% in hereditary pancreatitis caused by mutations in the PRSS1 gene.^[37] Expressivity refers to the degree of phenotypic severity among those who express the trait, which may range from mild to severe and can be influenced by factors like age of onset or environmental modifiers.^[35] Classic examples include Huntington's disease, caused by a CAG trinucleotide repeat expansion in the HTT gene on chromosome 4, leading to progressive neurodegeneration with nearly complete penetrance in individuals with sufficient repeats.^[38] Another is neurofibromatosis type 1, resulting from mutations in the NF1 gene on chromosome 17, which encodes neurofibromin and causes tumors and skin abnormalities with close to 100% penetrance by adulthood.^[39]

Autosomal Recessive Inheritance

Autosomal recessive inheritance refers to the pattern by which a genetic trait or disorder is transmitted through autosomes, requiring an individual to inherit two copies of a recessive allele—one from each parent—for the trait to be expressed. This results in a homozygous recessive genotype (aa), while heterozygous individuals (Aa), known as carriers, remain unaffected because the dominant allele (A) masks the recessive one. Both parents must be carriers for there to be a risk of affected offspring, and the carrier state often goes unnoticed without genetic testing.^[3] In family pedigrees, autosomal recessive disorders exhibit characteristic patterns, including horizontal transmission across siblings within a single generation and the skipping of generations, as the trait may not appear in carrier ancestors or descendants. Affected individuals are typically born to unaffected carrier parents, with each child of two carriers having a 25% chance of being affected (homozygous recessive), a 50% chance of being a carrier, and a 25% chance of being unaffected and non-carrier, assuming Mendelian segregation. These patterns contrast with autosomal dominant inheritance, where a single allele suffices for expression.^[3] Consanguinity, or marriage between close relatives, significantly elevates the risk of autosomal recessive disorders by increasing the likelihood that both parents carry the same rare recessive allele due to shared ancestry. Studies in consanguineous populations show higher incidences of such conditions, underscoring the importance of genetic counseling in these families to assess and mitigate risks.^[3]^[40] Prominent examples of autosomal recessive disorders include cystic fibrosis, caused by mutations in the CFTR gene located on chromosome 7, which disrupts chloride ion transport and affects approximately 1 in 3,000 newborns in certain populations. Another is sickle cell anemia, resulting from mutations in the HBB gene on chromosome 11, leading to abnormal hemoglobin that causes red blood cell sickling and is prevalent in regions with historical malaria endemicity.^[3]^[41]^[42]

Genetic Disorders and Variations

Types of Autosomal Disorders

Autosomal disorders encompass a range of genetic conditions arising from alterations in the 22 pairs of non-sex chromosomes, broadly classified into monogenic, chromosomal abnormalities, and polygenic or multifactorial categories. Monogenic disorders, also known as Mendelian disorders, result from mutations in a single gene on an autosome, leading to straightforward inheritance patterns without significant environmental influence. These are typically high-penetrance conditions where a single variant disrupts normal gene function, affecting protein production or regulation. Approximately 7,000 known Mendelian disorders have been cataloged, with the majority involving autosomal genes rather than sex-linked ones.^[43] Polygenic or multifactorial autosomal disorders, in contrast, arise from the combined effects of variants in multiple genes across autosomes, often interacting with environmental factors to produce disease phenotypes. Unlike monogenic cases, these do not follow simple Mendelian ratios and exhibit variable expressivity and penetrance, complicating prediction and diagnosis. Examples include common conditions like type 2 diabetes or coronary artery disease, where autosomal loci contribute cumulatively to susceptibility alongside lifestyle or exposure risks. This category highlights the complexity of human genetics, where no single autosome dominates but collective variations amplify disorder risk.^[44] Chromosomal abnormalities represent another major class of autosomal disorders, divided into structural and numerical types, often detectable via karyotyping or advanced genomic techniques. Structural abnormalities involve rearrangements within autosomes, such as deletions (loss of genetic material), duplications (extra copies), inversions (reversed segments), or translocations (material exchange between chromosomes). For instance, cri-du-chat syndrome stems from a deletion on the short arm of chromosome 5 (5p), resulting in severe developmental issues due to haploinsufficiency of critical genes. These alterations disrupt gene dosage or regulation, leading to contiguous gene syndromes.^[45] Numerical abnormalities, primarily aneuploidies, occur when autosomes are gained or lost during cell division, altering chromosome count from the typical diploid set. Trisomy 21, or Down syndrome, exemplifies this, caused by an extra copy of chromosome 21 in most cells, leading to intellectual disability and physical traits through global gene overexpression. Other autosomal aneuploidies, like trisomy 13 or 18, are rarer and often lethal, underscoring the intolerance of the genome to such imbalances. Monogenic autosomal disorders generally align with dominant or recessive inheritance patterns, providing a framework for genetic counseling.^[46]^[47]

Examples and Mechanisms

One prominent example of an autosomal disorder is Down syndrome, caused by trisomy 21, where an extra copy of chromosome 21 results in a total of 47 chromosomes instead of the typical 46.^[48] This condition arises primarily from nondisjunction during maternal meiosis I (approximately 66% of cases) or meiosis II (21%), with rarer paternal contributions, leading to improper segregation of chromosomes during gamete formation.^[49] Individuals with Down syndrome often exhibit intellectual disability, characteristic facial features such as almond-shaped eyes and a flat nasal bridge, and congenital heart defects in about 40-50% of cases, alongside increased risks for gastrointestinal issues and early-onset Alzheimer's disease.^[46] Tay-Sachs disease serves as a classic autosomal recessive disorder, resulting from biallelic mutations in the HEXA gene located on chromosome 15q23-24.^[50] These mutations impair the function of the α-subunit of β-hexosaminidase A, an enzyme essential for breaking down GM2 gangliosides in lysosomes, leading to their toxic accumulation primarily in neurons.^[51] The infantile form, the most severe, manifests in early childhood with progressive neurodegeneration, including seizures, loss of motor skills, and cherry-red spots on the retina, typically resulting in death by age 2-4 years due to respiratory failure.^[52] In autosomal disorders, underlying mechanisms vary by inheritance pattern; for recessive conditions like Tay-Sachs, loss-of-function mutations in both alleles prevent sufficient enzyme activity, causing substrate buildup.^[53] In dominant disorders, haploinsufficiency occurs when a single mutated allele reduces gene product below a critical threshold, as seen in some transcription factor disruptions leading to developmental anomalies.^[54] Gain-of-function mutations, conversely, confer novel or enhanced toxic properties to the protein, such as aberrant signaling in certain cancers or neurological conditions, while dominant-negative effects arise when mutant proteins interfere with wild-type counterparts in multimeric complexes.^[55] Diagnosis of autosomal disorders relies on cytogenetic and molecular techniques tailored to the suspected mechanism; karyotyping visualizes whole-chromosome aneuploidies like trisomy 21 in Down syndrome by staining and microscopic analysis of metaphase spreads.^[56] Fluorescence in situ hybridization (FISH) uses fluorescent probes to detect specific chromosomal regions or deletions, offering faster results for targeted abnormalities.^[57] For point mutations or small variants, as in Tay-Sachs, next-generation sequencing (NGS) panels or whole-exome sequencing identify pathogenic variants in genes like HEXA with high sensitivity, enabling carrier screening and prenatal diagnosis.^[51]

Evolutionary and Comparative Aspects

Autosomes in Other Organisms

In many organisms, the number and organization of autosomes deviate from the 22 pairs observed in humans, reflecting diverse evolutionary adaptations and genome structures. For instance, the fruit fly Drosophila melanogaster possesses three pairs of autosomes (chromosomes 2, 3, and 4) alongside its X and Y sex chromosomes, totaling six chromosomes in diploid cells excluding sex chromosomes.^[58] This configuration has made Drosophila a cornerstone of early genetic research, enabling foundational studies on inheritance patterns and chromosome mapping by scientists like Thomas Hunt Morgan in the early 20th century.^[59] Plants frequently exhibit polyploidy, where autosome sets are multiplied beyond the diploid state, leading to enhanced genetic diversity and adaptability. Bread wheat (Triticum aestivum), a hexaploid species, contains 21 pairs of autosomes (42 chromosomes total), resulting from successive hybridization events among ancestral diploid grasses.^[60] Such polyploid autosome arrangements are common across angiosperms, with estimates suggesting that 30-80% of plant species have experienced polyploidy in their lineages, contributing to traits like increased vigor and environmental resilience.^[61] Among mammals, autosome counts vary widely, underscoring phylogenetic differences. Primates typically have 22-24 autosomal pairs, as seen in chimpanzees (Pan troglodytes) with 24 pairs alongside their sex chromosomes.^[62] In contrast, dogs (Canis lupus familiaris) possess 38 autosomal pairs (76 autosomes total), plus sex chromosomes, for a diploid complement of 78 chromosomes; this higher number facilitates extensive genetic variation underlying breed diversity.^[63] Non-diploid systems further illustrate autosome variability, particularly in haplodiploid insects like honeybees (Apis mellifera). Females are diploid with 16 pairs of autosomes (32 chromosomes total), while males develop from unfertilized eggs as haploids with a single set of 16 autosomes, lacking a second homologous copy.^[64] This arrangement promotes eusocial behaviors through asymmetric relatedness but still relies on autosomes for essential genetic functions in both sexes.^[65]

Evolutionary Origins

Autosomes, the non-sex chromosomes, have evolved through a series of chromosomal rearrangements, including fusions and fissions, from ancestral chromosomes shared with other primates. In humans, the reduction from 48 to 46 chromosomes occurred via the telomeric fusion of two ancestral acrocentric chromosomes, forming the large metacentric chromosome 2, a event estimated to have taken place approximately 0.9 million years ago (95% confidence interval: 0.4–1.5 million years ago) in the human lineage after divergence from chimpanzees.^[62] This fusion is evidenced by vestigial telomeres and a centromere in the middle of human chromosome 2, homologous to chromosomes 2p and 2q in great apes. Such rearrangements highlight how autosomes adapt through structural changes while maintaining essential genetic content. The distinction between autosomes and sex chromosomes emerged around 300 million years ago in early vertebrates, marking a pivotal point in chromosomal evolution. This separation likely arose from the differentiation of proto-sex chromosomes from autosomes, with the X and Y (or Z and W) systems evolving independently in different lineages, such as mammals and birds. In cartilaginous fishes like sharks and rays, the oldest known vertebrate sex chromosomes share conserved gene content with autosomes, indicating that the initial divergence involved limited genetic differentiation before further degeneration in some lineages. This ancient split underscores the evolutionary stability of autosomes as the primary carriers of housekeeping and developmental genes across vertebrates. Hox gene clusters, critical for body patterning, are located on autosomes—specifically human chromosomes 2, 7, 12, and 17—and exhibit remarkable conservation across bilaterian animals, reflecting their ancient origin predating the Cambrian explosion over 500 million years ago. These clusters, arising from whole-genome duplications in early chordate ancestors, maintain syntenic organization and collinear expression from invertebrates like fruit flies to vertebrates, ensuring coordinated anterior-posterior development. The paralogous regions on these chromosomes further suggest quadruplication events that preserved Hox-linked genes, providing a framework for morphological diversity in bilaterians. Evolutionary tolerance to aneuploidy, the gain or loss of chromosomes, varies significantly between plants and animals, with plants demonstrating greater resilience due to adaptive mechanisms that mitigate dosage imbalances. In animals, aneuploidy often leads to severe developmental defects or lethality because of strict gene dosage requirements, whereas plants can tolerate it through flexible gene regulation and polyploidy history, allowing survival and even fertility in aneuploid states. This disparity likely evolved from differences in reproductive strategies and genome stability, with plants benefiting from vegetative propagation that buffers chromosomal instability.

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Aug 8, 2023 · Karyotyping is one of the most preferred methods to detect structural and numerical abnormalities. · Fluorescence in situ hybridization (FISH) ...Missing: autosomal | Show results with:autosomal
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Based on findings from this case series, cell-based FISH and karyotyping should be performed to detect common aneuploidies, structural chromosomal abnormalities ...Missing: disorders | Show results with:disorders
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The genome of Drosophila melanogaster is organized into two sex chromosomes (X and Y) and three autosomes (autosomes 2, 3, and 4).
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Jun 6, 2017 · In the early days of Drosophila genetics, new mutations were found as serendipitous spontaneous occurrences. ... Compound autosomes in Drosophila ...
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Aug 17, 2018 · Bread wheat is a polyploid derived from the hybridizations between three distinct diploid species and is an informative system for analyzing the effects of ...Missing: autosomes | Show results with:autosomes
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Polyploid organisms contain more than two sets of chromosomes. Many of the plants we eat are polyploids, such as some varieties of wheat and strawberries.
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Revised time estimation of the ancestral human chromosome 2 fusion
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https://extension.psu.edu/honey-bee-genetics-basics/