PMC7310204_01
Consanguineous family analysis and phenotypes of patients with globozoospermia. a. Consanguineous pedigree of the proband family with complete deletion ofDPY19L2. The patient (II:1) was suffering from globozoospermia had homozygous deletion of exons 1, 11 and 22 of DPY19L2. And heterozygous deletion in exons 1, 11, 22 of DPY19L2 in mother of proband (I:2), while no mutation was found in exons 1, 11 and 22 of DPY19L2 of his father (I:1). b. Papanicolaou staining of sperm cells from normal control and the proband globozoospermia. Black arrows indicate spermatozoa from globozoospermia. Scale bar: 20 mum. c. Ultrastructure of the Sperm from normal control and patient with complete loss of DPY19L2 showing that the DPY19L2-null spermatozoa had round sperm head. The black arrow indicates the head of normal control sperm and the head of DPY19L2 completely missing sperm.
13039_2020_495_Fig1_HTML.jpg
PMC7310204_05_13039_2020_495_Fig1_HTML.jpg
Fig1
The ultrastructure of the sperm in the control patient was normal, while that of the proband was round (Fig. 1c).
PMC7310204_02
PMC7310204_03
Consanguineous family analysis and phenotypes of patients with globozoospermia. a. Consanguineous pedigree of the proband family with complete deletion ofDPY19L2. The patient (II:1) was suffering from globozoospermia had homozygous deletion of exons 1, 11 and 22 of DPY19L2. And heterozygous deletion in exons 1, 11, 22 of DPY19L2 in mother of proband (I:2), while no mutation was found in exons 1, 11 and 22 of DPY19L2 of his father (I:1). b. Papanicolaou staining of sperm cells from normal control and the proband globozoospermia. Black arrows indicate spermatozoa from globozoospermia. Scale bar: 20 mum. c. Ultrastructure of the Sperm from normal control and patient with complete loss of DPY19L2 showing that the DPY19L2-null spermatozoa had round sperm head. The black arrow indicates the head of normal control sperm and the head of DPY19L2 completely missing sperm.
13039_2020_495_Fig1_HTML.jpg
PMC7310204_05_13039_2020_495_Fig1_HTML.jpg
Fig1
The ultrastructure of the sperm in the control patient was normal, while that of the proband was round (Fig. 1c).
Genome sequencing results of patient samples. a. The results of CNVseq: CNV: copy number variation. b. The domains and mutations inDPY19L2. The DPY19L2 is located on chromosome 12q14.2 and approximately 110.027 kb long. This gene has 22 exons encoding 758 amino acids with a molecular mass of 87.374 kDa. The Chromosome 12q14.2 (g.63950001-64130000) was homozygous deletion of about 180 kb,the mutation leads to complete deletion of DPY19L2
13039_2020_495_Fig2_HTML.jpg
PMC7310204_03_13039_2020_495_Fig2_HTML.jpg
Fig2
Approximately 180 kbp of homozygotic deletion was found on chromosome 12 locus 12q14.2 in the patient sample (g.63950001-64,130,000) (Fig. 2a).
PMC7310204_04
Consanguineous family analysis and phenotypes of patients with globozoospermia. a. Consanguineous pedigree of the proband family with complete deletion ofDPY19L2. The patient (II:1) was suffering from globozoospermia had homozygous deletion of exons 1, 11 and 22 of DPY19L2. And heterozygous deletion in exons 1, 11, 22 of DPY19L2 in mother of proband (I:2), while no mutation was found in exons 1, 11 and 22 of DPY19L2 of his father (I:1). b. Papanicolaou staining of sperm cells from normal control and the proband globozoospermia. Black arrows indicate spermatozoa from globozoospermia. Scale bar: 20 mum. c. Ultrastructure of the Sperm from normal control and patient with complete loss of DPY19L2 showing that the DPY19L2-null spermatozoa had round sperm head. The black arrow indicates the head of normal control sperm and the head of DPY19L2 completely missing sperm.
13039_2020_495_Fig1_HTML.jpg
PMC7310204_05_13039_2020_495_Fig1_HTML.jpg
Fig1
The ultrastructure of the sperm in the control patient was normal, while that of the proband was round (Fig. 1c).
PMC7310204_05
Consanguineous family analysis and phenotypes of patients with globozoospermia. a. Consanguineous pedigree of the proband family with complete deletion ofDPY19L2. The patient (II:1) was suffering from globozoospermia had homozygous deletion of exons 1, 11 and 22 of DPY19L2. And heterozygous deletion in exons 1, 11, 22 of DPY19L2 in mother of proband (I:2), while no mutation was found in exons 1, 11 and 22 of DPY19L2 of his father (I:1). b. Papanicolaou staining of sperm cells from normal control and the proband globozoospermia. Black arrows indicate spermatozoa from globozoospermia. Scale bar: 20 mum. c. Ultrastructure of the Sperm from normal control and patient with complete loss of DPY19L2 showing that the DPY19L2-null spermatozoa had round sperm head. The black arrow indicates the head of normal control sperm and the head of DPY19L2 completely missing sperm.
13039_2020_495_Fig1_HTML.jpg
PMC7310204_05_13039_2020_495_Fig1_HTML.jpg
Fig1
The ultrastructure of the sperm in the control patient was normal, while that of the proband was round (Fig. 1c).
PMC7310204_06
Expression of DPY19L2 in the Patient and normal control. Western blotting analysis of DPY19L2 in sperm cells from control and the proband. Ac-tubulin was used as a loading control
13039_2020_495_Fig3_HTML.jpg
PMC7310204_06_13039_2020_495_Fig3_HTML.jpg
Fig3