Fisica Aplicada
Chromosome 2
Chromosome 2 is one of the 23 pairs of chromosomes in humans, it is the second largest. It spans more than 240 million base pairs and represents almost 8%of the total DNA in cells. People normally have two copies of this chromosome.
Chromosome 2 likely contains 1,491 genes, including those of the HOXD homeobox gene cluster.
Humans have only 23 pairsof chromosomes. Human chromosome 2 is widely accepted to be a result of an end-to-end fusion of two ancestral chromosomes.
The evidence for this includes:
Fusion of ancestral chromosomes leftdistinctive remnants of telomeres, and a vestigial centromere
The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the chimpanzee, has near-identical DNA sequences tohuman chromosome 2, but they are found in two separate chromosomes. The same is true of the more distant gorilla and orangutan.
The presence of a vestigial centromere. Normally a chromosome has just onecentromere, but in chromosome 2 there are remnants of a second centromere.
The presence of vestigial telomeres. These are normally found only at the ends of a chromosome, but in chromosome 2 thereare additional telomere sequences in the middle.
Chromosome 2 presents very strong evidence in favor of the common descent of humans and other apes.
It contains the following genes: ABCA12, ABCG5,ABCG8, AGXT, ALMS1, ALS2, BMPR2, COL3A1, COL4A3, COL4A4, COL5A2, HADHA, HADHB, MSH2, MSH6, NR4A2, OTOF, PAX3, PAX8, PELI1, SLC40A1, TPO, TBR1.
Autism, alport syndrome, hyperoxaluria, primary pulmonaryhypertension are diseases related to genes located in chromosome 2.
Autism
Autism is a disorder of neural development characterized by impaired social interaction and communication, and byrestricted and repetitive behavior. These signs all begin before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their synapses connect and...
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