TY - JOUR
T1 - The human Y chromosome: a masculine chromosome
AU - Noordam, Michiel J.
AU - Repping, Sjoerd
PY - 2006
Y1 - 2006
N2 - Once considered to be a genetic wasteland of no scientific interest beyond sex determination, the human Y chromosome has made a significant comeback in the past few decades and is currently implicated in multiple diseases, including spermatogenic failure - absent or very low levels of sperm production. The Y chromosome contains over one hundred testis-specific transcripts, and several deletions have been described that remove some of these transcripts, thereby causing spermatogenic failure. Screening for such deletions in infertile men is now a standard part of clinical evaluation. Many other Y-chromosome structural variants, some of which affect gene copy number, have been reported recently, and future research will be necessary to address the phenotypic effect of these structural variants
AB - Once considered to be a genetic wasteland of no scientific interest beyond sex determination, the human Y chromosome has made a significant comeback in the past few decades and is currently implicated in multiple diseases, including spermatogenic failure - absent or very low levels of sperm production. The Y chromosome contains over one hundred testis-specific transcripts, and several deletions have been described that remove some of these transcripts, thereby causing spermatogenic failure. Screening for such deletions in infertile men is now a standard part of clinical evaluation. Many other Y-chromosome structural variants, some of which affect gene copy number, have been reported recently, and future research will be necessary to address the phenotypic effect of these structural variants
U2 - https://doi.org/10.1016/j.gde.2006.04.018
DO - https://doi.org/10.1016/j.gde.2006.04.018
M3 - Review article
C2 - 16650761
SN - 0959-437X
VL - 16
SP - 225
EP - 232
JO - Current opinion in genetics & development
JF - Current opinion in genetics & development
IS - 3
ER -