2013
DOI: 10.1093/molehr/gat018
|View full text |Cite
|
Sign up to set email alerts
|

DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations

Abstract: Globozoospermia, characterized by round-headed spermatozoa without acrosomes, is a rare and severe teratozoospermia causing primary male infertility. Homozygous DPY19L2 deletions have been identified as the main cause of globozoospermia, blocking sperm head elongation and acrosome formation. Several previous studies showed a very different prevalence of DPY19L2 gene deletions among globozoospermic patients in cohorts with different sample sizes and in different ethnic background. And all the patients previousl… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

3
48
0

Year Published

2013
2013
2022
2022

Publication Types

Select...
5
2
2

Relationship

0
9

Authors

Journals

citations
Cited by 48 publications
(51 citation statements)
references
References 36 publications
3
48
0
Order By: Relevance
“…Deletions and mutations in some human genes, including SPATA16, PICK1, DPY19L2, and ZPBP1, have been identified in globozoospermia patients (33)(34)(35)(36)(37)(38). Gene-knockout mice, including ZPBP1-null (23), SPACA1-null (24), and GOPC-null mice (25), are known to exhibit the phenotype similar to that of human globozoospermia (39)(40)(41)(42)(43)(44)(45)(46)(47).…”
Section: Discussionmentioning
confidence: 99%
“…Deletions and mutations in some human genes, including SPATA16, PICK1, DPY19L2, and ZPBP1, have been identified in globozoospermia patients (33)(34)(35)(36)(37)(38). Gene-knockout mice, including ZPBP1-null (23), SPACA1-null (24), and GOPC-null mice (25), are known to exhibit the phenotype similar to that of human globozoospermia (39)(40)(41)(42)(43)(44)(45)(46)(47).…”
Section: Discussionmentioning
confidence: 99%
“…The other genetic defects consisted in mutations [45,47,48]. A donor splice-site mutation in intron 11 (c.1218+1G.A) was identified in one patient.…”
Section: Molecular Genetic Studiesmentioning
confidence: 98%
“…Subsequently, a whole genome SNP scan on 20 patients presenting with total globozoospermia allowed the identification of a 200 kb homozygous deletion encompassing only DPY19L2 in 15 patients of different ethnic background [44]. More patients with globozoospermia associated with a homozygous deletion of the whole DPY19L2 were reported [45][46][47][48]. The mechanism underlying this deletion is due to a non-allelic homologous recombination (NAHR) between two low copy repeats that share 96.5 % identity and flank the DPY19L2 locus [43].…”
Section: Molecular Genetic Studiesmentioning
confidence: 99%
“…Out of 36 patients with the mutated gene, 69.4% were homozygotes, 19.4% were compound heterozygotes for both this deletion and a point mutation and 11.1% showed a homozygous point mutation. Molecular analysis of the DPY19L2 gene among Chinese globozoospermic patients revealed that a genetic defect was present in nine (60.0%) of the 15 unrelated patients [ 13 ] . Four patients were homozygous for the deletion and five were homozygous for a point mutation.…”
Section: Introductionmentioning
confidence: 99%