The Human Y Chromosome: A 43-Interval Map Based on Naturally Occurring Deletions

TLDR

A deletion map of the human Y chromosome was built by PCR‑based analysis of 96 individuals with partial Y chromosomes, including XX males, XY females, and various translocated or deleted Y variants, covering 132 sequence‑tagged loci. The resulting map delineates 43 euchromatic intervals on the Y chromosome, each defined by natural breakpoints and averaging under 800 kb, providing a tool for gene discovery, chromosomal disorder investigation, and evolutionary studies.

Abstract

A deletion map of the human Y chromosome was constructed by testing 96 individuals with partial Y chromosomes for the presence or absence of many DNA loci. The individuals studied included XX males, XY females, and persons in whom chromosome banding had revealed translocated, deleted, isodicentric, or ring Y chromosomes. Most of the 132 Y chromosomal loci mapped were sequence-tagged sites, detected by means of the polymerase chain reaction. These studies resolved the euchromatic region (short arm, centromere, and proximal long arm) of the Y chromosome into 43 ordered intervals, all defined by naturally occurring chromosomal breakpoints and averaging less than 800 kilobases in length. This deletion map should be useful in identifying Y chromosomal genes, in exploring the origin of chromosomal disorders, and in tracing the evolution of the Y chromosome.