What does AUTS2 gene do?
The autism susceptibility candidate 2 (AUTS2) gene is associated with multiple neurological diseases, includ- ing autism, and has been implicated as an important gene in human-specific evolution. Recent functional analysis of this gene has revealed a potential role in neuronal development.
What is AUTS2 syndrome?
AUTS2 syndrome is a genetic disorder that causes intellectual disability, microcephaly, and other phenotypes. Syndrome severity is worse when mutations involve 3′ regions (exons 9-19) of the AUTS2 gene.
How many people have AUTS2?
AUTS2-related conditions are very rare, with less than 100 individuals reported so far worldwide.
What gene is affected by DiGeorge syndrome?
DiGeorge syndrome is caused by a problem with a person’s genes, called 22q11 deletion. It is not usually passed on to a child by their parents, but it is in a few cases. It’s often diagnosed soon after birth with a blood test to check for the genetic fault.
What is 22q duplication?
2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability).
What causes duplication in chromosomes?
Duplications typically arise from an event termed unequal crossing-over (recombination) that occurs between misaligned homologous chromosomes during meiosis (germ cell formation). The chance of this event happening is a function of the degree of sharing of repetitive elements between two chromosomes.
What happens if you have an extra 22 chromosome?
Mosaic trisomy 22 is a disorder in which an extra chromosome 22 is found only in some cells of the body. The severity of each case is determined by the number of cells with this extra copy. Some characteristics of individuals with this condition are cardiac abnormalities, growth retardation, mental delay, etc.
What is an inverted duplicated 22?
Cat-eye syndrome is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22. In people with this condition, each cell has at least one small extra chromosome made up of genetic material from chromosome 22 that has been abnormally duplicated.
How does gene duplication work?
Gene duplication is the process by which a region of DNA coding for a gene is copied. Gene duplication can occur as the result of an error in recombination or through a retrotransposition event. Duplicate genes are often immune to the selective pressure under which genes normally exist.
How can duplicated genes lead to the development of new adaptations in a species?
When a gene is duplicated, the original gene may continue to perform its old role, whereas the duplicated copy of the gene may start to mutate and perform a new role. When this new trait manifests in an organism, it may either increase or decrease their fitness level.
Why is trisomy 22 lethal?
Patients with mosaic trisomy 22 often have congenital heart defects. Atrial septal defects and ventricular septal defects are the most common cardiac malformations for these patients.
What is the 21st chromosome responsible for?
Chromosome 21 is both the smallest human autosome and chromosome, with 48 million base pairs (the building material of DNA) representing about 1.5 percent of the total DNA in cells….
| Chromosome 21 | |
|---|---|
| Entrez | Chromosome 21 |
| NCBI | Chromosome 21 |
| UCSC | Chromosome 21 |
| Full DNA sequences |
Is Auts2 a risk gene for autism spectrum disorders?
The autism susceptibility candidate 2 ( AUTS2, also termed “activator of transcription and developmental regulator” by the HUGO Gene Nomenclature Committee, #14262) gene was initially reported as an ASD risk gene disrupted by de novo balanced chromosomal translocation in monozygotic twins with ASD in 2002 [ 11 ].
Does Auts2 have an important role in the evolution of cognitive traits?
Our enhancer results, combined with the observation that human-specific neurological disorders are associated with mutations in this gene, suggest that AUTS2 has an important role in the evolution of human cognitive traits.
How is Auts2 regulated in PC development?
AUTS2 is a key regulator involved in a wide range of processes during PC development, including neurogenesis, dendrite maturation, and PC-centric neural circuit assembly. However, the molecular mechanisms underlying the regulation of AUTS2 in PC development are not well understood.
How does the Auts2 locus affect autism?
Nucleotide changes in the AUTS2 locus, some of which affect only noncoding regions, are associated with autism and other neurological disorders, including attention deficit hyperactivity disorder, epilepsy, dyslexia, motor delay, language delay, visual impairment, microcephaly, and alcohol consumption.