Structural variation of the human genome: mechanisms, assays, and role in male infertility.

摘要: Genomic disorders are defined as diseases caused by rearrangements of the genome incited a genomic architecture that conveys instability. Y-chromosome related dysfunctions such male infertility frequently associated with gross DNA resulting from its peculiar architecture. The has evolved into highly specialized chromosome to perform functions, mainly spermatogenesis. Direct and inverted repeats, some them palindromes identical nucleotide sequences can form cruciform structures, characterize structure long arm. Some particular Y deletions cause spermatogenic failure likely because removal one or more transcriptional units potential role in We describe mechanisms underlying formation human on autosomes review infertility.