PMID- 24373333
OWN - NLM
STAT- MEDLINE
DCOM- 20140908
LR  - 20211021
IS  - 1471-2164 (Electronic)
IS  - 1471-2164 (Linking)
VI  - 14
DP  - 2013 Dec 27
TI  - Male infertility and copy number variants (CNVs) in the dog: a two-pronged 
      approach using Computer Assisted Sperm Analysis (CASA) and Fluorescent In Situ 
      Hybridization (FISH).
PG  - 921
LID - 10.1186/1471-2164-14-921 [doi]
AB  - BACKGROUND: Infertility affects ~10-15% of couples trying to have children, in 
      which the rate of male fertility problems is approximately at 30-50%. Copy number 
      variations (CNVs) are DNA sequences greater than or equal to 1 kb in length 
      sharing a high level of similarity, and present at a variable number of copies in 
      the genome; in our study, we used the canine species as an animal model to detect 
      CNVs responsible for male infertility. We aim to identify CNVs associated with 
      male infertility in the dog genome with a two-pronged approach: we performed a 
      sperm analysis using the CASA system and a cytogenetic-targeted analysis on genes 
      involved in male gonad development and spermatogenesis with fluorescence in situ 
      hybridization (FISH), using dog-specific clones. This analysis was carried out to 
      evaluate possible correlations between CNVs on targeted genes and spermatogenesis 
      impairments or infertility factors. RESULTS: We identified two genomic regions 
      hybridized by BACs CH82-321J09 and CH82-509B23 showing duplication patterns in 
      all samples except for an azoospermic dog. These two regions harbor two important 
      genes for spermatogenesis: DNM2 and TEKT1. The genomic region encompassed by the 
      BAC clone CH82-324I01 showed a single-copy pattern in all samples except for one 
      dog, assessed with low-quality sperm, displaying a marked duplication pattern. 
      This genomic region harbors SOX8, a key gene for testis development. CONCLUSION: 
      We present the first study involving functional and genetic analyses in male 
      infertility. We set up an extremely reliable analysis on dog sperm cells with a 
      highly consistent statistical significance, and we succeeded in conducting FISH 
      experiments on sperm cells using BAC clones as probes. We found copy number 
      differences in infertile compared with fertile dogs for genomic regions 
      encompassing TEKT1, DNM2, and SOX8, suggesting those genes could have a role if 
      deleted or duplicated with respect to the reference copy number in fertility 
      biology. This method is of particular interest in the dog due to the recognized 
      role of this species as an animal model for the study of human genetic diseases 
      and could be useful for other species of economic interest and for endangered 
      animal species.
FAU - Cassatella, Daniele
AU  - Cassatella D
FAU - Martino, Nicola Antonio
AU  - Martino NA
FAU - Valentini, Luisa
AU  - Valentini L
FAU - Guaricci, Antonio Ciro
AU  - Guaricci AC
FAU - Cardone, Maria Francesca
AU  - Cardone MF
FAU - Pizzi, Flavia
AU  - Pizzi F
FAU - Dell'Aquila, Maria Elena
AU  - Dell'Aquila ME
FAU - Ventura, Mario
AU  - Ventura M
AD  - Dipartimento di Biologia, Universita degli Studi di Bari "Aldo Moro", Bari, 
      Italy. mario.ventura@uniba.it.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20131227
PL  - England
TA  - BMC Genomics
JT  - BMC genomics
JID - 100965258
SB  - IM
MH  - Animals
MH  - Chromosome Mapping
MH  - DNA Copy Number Variations/*genetics
MH  - Dogs
MH  - Humans
MH  - *Image Processing, Computer-Assisted
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/*genetics/pathology
MH  - Male
MH  - Spermatogenesis/genetics
MH  - Spermatozoa/*pathology
PMC - PMC3922845
EDAT- 2014/01/01 06:00
MHDA- 2014/09/10 06:00
PMCR- 2013/12/27
CRDT- 2013/12/31 06:00
PHST- 2013/07/17 00:00 [received]
PHST- 2013/12/10 00:00 [accepted]
PHST- 2013/12/31 06:00 [entrez]
PHST- 2014/01/01 06:00 [pubmed]
PHST- 2014/09/10 06:00 [medline]
PHST- 2013/12/27 00:00 [pmc-release]
AID - 1471-2164-14-921 [pii]
AID - 10.1186/1471-2164-14-921 [doi]
PST - epublish
SO  - BMC Genomics. 2013 Dec 27;14:921. doi: 10.1186/1471-2164-14-921.