Document Detail

Microdeletion of chromosome Y in male infertility: role of the DAZ gene
MedLine Citation:
PMID:  11688365     Owner:  NLM     Status:  MEDLINE    
Microdeletions of the Y chromosome represent the most frequent cause of male infertility, being responsible for 10-15% of cases of azoospermia or severe oligozoospermia. Such mutations localize in one or more loci named azoospermia factor (AZF) a, b and c. Mutations more frequently involve the DAZ gene in AZFc, and could determine both azoospermia and severe oligozoospermia. It is therefore difficult to find a clear relationship between genotype and phenotype. DAZ is present in multiple copies in AZFc, and this causes the gene to be difficult to analyze. In fact, polymerase chain reaction, the principal technique utilized for detection of the deletions, cannot distinguish among the different copies of the gene. Furthermore, it is not clear if all the DAZ copies are expressed in the testis, and other genes, such as CDY1, map in AZFc; therefore their alteration may play a role in determining the phenotype. In this review we report the current knowledge on the function of the Y chromosome in human spermatogenesis. In particular we analyze some of our experimental studies on the role of the DAZ gene family. Expression studies allowed us to clarify that an altered expression of DAZ might cause infertility in patients with severe testiculopathies. Furthermore, we describe for the first time a deletion not involving all the DAZ copies in a patient with severe hypospermatogenesis and we clarify that CDY1 is not involved in the testicular damage observed in patients with deletions of DAZ. These studies elucidate the role of DAZ and have important clinical consequences in the diagnostic and therapeutic approach of the infertile patient, above all when he is a candidate for assisted reproduction techniques, due to the possibility of transmitting the genetic alteration to the offspring.
C Foresta; A Ferlin; E Moro; P Marin; A Rossi; C Scandellari
Publication Detail:
Type:  English Abstract; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Annali italiani di medicina interna : organo ufficiale della Società italiana di medicina interna     Volume:  16     ISSN:  0393-9340     ISO Abbreviation:  Ann. Ital. Med. Int.     Publication Date:    2001 Apr-Jun
Date Detail:
Created Date:  2001-11-01     Completed Date:  2002-06-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8806705     Medline TA:  Ann Ital Med Int     Country:  Italy    
Other Details:
Languages:  ita     Pagination:  82-92     Citation Subset:  IM    
Clinica Medica 3, Dipartimento di Scienze Mediche e Chirurgiche, Università degli Studi di Padova.
Vernacular Title:
Microdelezioni del cromosoma Y nell'infertilità maschile: ruolo del gene DAZ.
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MeSH Terms
Chromosome Deletion*
Infertility, Male / genetics*
Oligospermia / genetics*
RNA-Binding Proteins / genetics*
Y Chromosome / genetics*
Reg. No./Substance:
0/DAZ1 protein, human; 0/RNA-Binding Proteins

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