CNVs in spermatozoa or other germ cells?

"CNVs can also be involved in disease indirectly by influencing gene expression through positional effects. The change may be quite distant from a disease-causing gene, but it could adversely influence its expression. The presence of a CNV may also alter the architecture of the genome such that it is more prone to further changes to occur in subsequent mitoses or meioses."

We are just seeing the tip of the iceberg. Certainly to best understand possible complexities, CNV-type investigations should be incorporated into all genetic studies going forward… at least I would hope so.








CNVs in spermatogonia and/or other germ cells?

HI,

That is a very interesting line of research. I am not aware of any groups doing this kind of work (CNVs in spermatozoa or germ cells).

Thanks,

Armand Zini



CMAJ • August 29, 2006; 175 (5). doi:10.1503/cmaj.060218.
© 2006 CMA Media Inc. or its licensors




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Review

Sperm DNA damage: clinical significance in the era of assisted reproduction
Armand Zini and Jamie Libman
From the Division of Urology, Department of Surgery, McGill University, Montréal, Que.

Correspondence to: Dr. Armand Zini, Rm. 2304, St. Mary's Hospital, 3830 Lacombe Ave., Montréal QC H3T 1M5; fax 514 734-2718; armand.zini@ssss.gouv.qc.ca

Abstract

Evidence suggests that damage to human sperm DNA might adversely affect reproductive outcomes and that the spermatozoa of infertile men possess substantially more sperm DNA damage than do the spermatozoa of fertile men. This is particularly relevant in an era where advanced forms of assisted reproductive technologies are commonly used (technologies that often bypass the barriers to natural selection), because there is some uncertainty regarding the safety of using DNA-damaged spermatozoa. In this review, we outline our current understanding of how sperm DNA is organized, what causes sperm DNA damage, what impact this damage may have on reproductive capacity and whether tests of sperm DNA damage are clinically useful.



Zini, Armand M.D.


Clinical Interest : Male Infertility
Research Interest : Sperm DNA integrity
Semen oxidants
Varicocele
Undergraduate studies : Mariannopolis College
Health Sciences
1980-1982

McGill University
B.Sc. in Biochemistry
1982-1985
Medical school :
McGill University
1985-1989


Urology Training :
McGill University
1989-1994
Fellowship : Cornell University, New York
Male Infertility
1994-1996
Current Appointment : Associate Professor
Department of Surgery

Grants Currently Held : Physicians Services Incoporated, Ontario
Current Address : St. Mary's Hospital
3830 Lacombe
Montreal, Quebec
Tel: (514) 345-3511 ext:3282