Chromosome 2

Abstract

The human chromosome 2 was formed by a head-to-head fusion mutation caused by two chromosomes of our ancestors. The gorilla and chimpanzee contain 48 chromosomes in contrast to 46 chromosomes in humans. Ten million years ago, the two chromosomes of apes underwent telomere-to-telomere fusion that gave rise to human chromosome 2. Apart from the exciting history, the human chromosome 2 is involved in various genetic conditions caused due to chromosomal deletions and duplications, leading to SATB2 (Special AT-rich sequence-binding protein 2)-associated syndrome, MBD5 (Methyl-CpG-binding domain 5)-associated neurodevelopmental disorder, 2q37 deletion syndrome, partial trisomy 2, myelodysplastic syndrome as well as cancer. These mutations cause different human abnormalities, such as craniofacial anomalies, cleft palate, genitourinary tract anomalies, microcephaly, hypotonia, heart defects, anemia, and myeloid malignancies. This chapter discusses 50 genes of human chromosome 2 involved in various cancer types.