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Article Title: A novel frameshift variant in AXDND1 may cause multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family
Article Snippet: SPAG6 antibody , Proteintech , 12462-1-AP , Rabbit , 1:100 for IF.




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Compromised sperm axonemal structure in the patient IV:9 carrying homozygous AXDND1 frameshift mutation. ( a ) Representative TEM micrographs showing cross-sections of the sperm flagella from two different fertile control 1 and control 2, and the patient IV:9. Severely disorganized axonemes were observed in the patient IV:9. Scale bars = 200 nm. ( b ) Proportions of normal or abnormal axonemal cross-sections in two different fertile controls (control 1 and control 2) and the patient IV:9. n : the number of observed cross-sections. ( c ) Proportions of axonemal cross-sections with central pair present or missing in two different fertile controls (control 1 and control 2) and the patient IV:9. n: the number of observed cross-sections. ( d ) Immunofluorescence staining of α-Tubulin (green) and <t>SPAG6</t> (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. ( e ) Immunofluorescence staining of α-Tubulin (green) and DNALI1 (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. AXDND1 : axonemal dynein light chain domain containing 1; SPAG6: sperm-associated antigen 6; ADCY10 : adenylate cyclase 10; DNALI1: dynein axonemal light intermediate chain 1; lof: loss of function.
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Compromised sperm axonemal structure in the patient IV:9 carrying homozygous AXDND1 frameshift mutation. ( a ) Representative TEM micrographs showing cross-sections of the sperm flagella from two different fertile control 1 and control 2, and the patient IV:9. Severely disorganized axonemes were observed in the patient IV:9. Scale bars = 200 nm. ( b ) Proportions of normal or abnormal axonemal cross-sections in two different fertile controls (control 1 and control 2) and the patient IV:9. n : the number of observed cross-sections. ( c ) Proportions of axonemal cross-sections with central pair present or missing in two different fertile controls (control 1 and control 2) and the patient IV:9. n: the number of observed cross-sections. ( d ) Immunofluorescence staining of α-Tubulin (green) and <t>SPAG6</t> (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. ( e ) Immunofluorescence staining of α-Tubulin (green) and DNALI1 (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. AXDND1 : axonemal dynein light chain domain containing 1; SPAG6: sperm-associated antigen 6; ADCY10 : adenylate cyclase 10; DNALI1: dynein axonemal light intermediate chain 1; lof: loss of function.
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Compromised sperm axonemal structure in the patient IV:9 carrying homozygous AXDND1 frameshift mutation. ( a ) Representative TEM micrographs showing cross-sections of the sperm flagella from two different fertile control 1 and control 2, and the patient IV:9. Severely disorganized axonemes were observed in the patient IV:9. Scale bars = 200 nm. ( b ) Proportions of normal or abnormal axonemal cross-sections in two different fertile controls (control 1 and control 2) and the patient IV:9. n : the number of observed cross-sections. ( c ) Proportions of axonemal cross-sections with central pair present or missing in two different fertile controls (control 1 and control 2) and the patient IV:9. n: the number of observed cross-sections. ( d ) Immunofluorescence staining of α-Tubulin (green) and <t>SPAG6</t> (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. ( e ) Immunofluorescence staining of α-Tubulin (green) and DNALI1 (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. AXDND1 : axonemal dynein light chain domain containing 1; SPAG6: sperm-associated antigen 6; ADCY10 : adenylate cyclase 10; DNALI1: dynein axonemal light intermediate chain 1; lof: loss of function.
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Compromised sperm axonemal structure in the patient IV:9 carrying homozygous AXDND1 frameshift mutation. ( a ) Representative TEM micrographs showing cross-sections of the sperm flagella from two different fertile control 1 and control 2, and the patient IV:9. Severely disorganized axonemes were observed in the patient IV:9. Scale bars = 200 nm. ( b ) Proportions of normal or abnormal axonemal cross-sections in two different fertile controls (control 1 and control 2) and the patient IV:9. n : the number of observed cross-sections. ( c ) Proportions of axonemal cross-sections with central pair present or missing in two different fertile controls (control 1 and control 2) and the patient IV:9. n: the number of observed cross-sections. ( d ) Immunofluorescence staining of α-Tubulin (green) and SPAG6 (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. ( e ) Immunofluorescence staining of α-Tubulin (green) and DNALI1 (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. AXDND1 : axonemal dynein light chain domain containing 1; SPAG6: sperm-associated antigen 6; ADCY10 : adenylate cyclase 10; DNALI1: dynein axonemal light intermediate chain 1; lof: loss of function.

Journal: Asian Journal of Andrology

Article Title: A novel frameshift variant in AXDND1 may cause multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family

doi: 10.4103/aja202538

Figure Lengend Snippet: Compromised sperm axonemal structure in the patient IV:9 carrying homozygous AXDND1 frameshift mutation. ( a ) Representative TEM micrographs showing cross-sections of the sperm flagella from two different fertile control 1 and control 2, and the patient IV:9. Severely disorganized axonemes were observed in the patient IV:9. Scale bars = 200 nm. ( b ) Proportions of normal or abnormal axonemal cross-sections in two different fertile controls (control 1 and control 2) and the patient IV:9. n : the number of observed cross-sections. ( c ) Proportions of axonemal cross-sections with central pair present or missing in two different fertile controls (control 1 and control 2) and the patient IV:9. n: the number of observed cross-sections. ( d ) Immunofluorescence staining of α-Tubulin (green) and SPAG6 (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. ( e ) Immunofluorescence staining of α-Tubulin (green) and DNALI1 (red) antibodies on spermatozoa from a fertile control, patient IV:9 and a patient carrying ADCY10 lof mutation. Scale bars = 5 µm. AXDND1 : axonemal dynein light chain domain containing 1; SPAG6: sperm-associated antigen 6; ADCY10 : adenylate cyclase 10; DNALI1: dynein axonemal light intermediate chain 1; lof: loss of function.

Article Snippet: SPAG6 antibody , Proteintech , 12462-1-AP , Rabbit , 1:100 for IF.

Techniques: Mutagenesis, Control, Immunofluorescence, Staining