SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility
Samantha L.P. Schilit, Shreya Menon, Corinna Friedrich, Tammy Kammin, Ellen Wilch, Carrie Hanscom, Sizun Jiang, Sabine Kliesch, Michael E. Talkowski, Frank Tüttelmann, Amy J. MacQueen and Cynthia C. Morton, 02.01.2020
SCHILIT, Samantha LP, et al. SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility. The American Journal of Human Genetics, 2020, 106. Jg., Nr. 1, S. 41-57.
Publication: https://doi.org/10.1016/j.ajhg.2019.11.013
Disclaimer
The publication SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility by Samantha L.P. Schilit, Shreya Menon, Corinna Friedrich, Tammy Kammin, Ellen Wilch, Carrie Hanscom, Sizun Jiang, Sabine Kliesch, Michael E. Talkowski, Frank Tüttelmann, Amy J. MacQueen and Cynthia C. Morton is not published under an open access license.
Therefore, only content curated by the MFGA team can be shown.
For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team
Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information,
conditions, processed tissue types and processed cell types) have been added based on information from the publication.
Data set 1: DGAP230 Breakpoint Characterization
Genome: Microarray
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:0000798: Oligozoospermia |
1 |
DGAP230, who presented with a 2-year history of infertility at age 28. His evaluation showed severe oligozoospermia (<2 M/mL) with normal semen volume. GTG-banded metaphase chromosomes revealed the apparently balanced reciprocal translocation 46,XY,t(20;22)(q13.3;q11.2) |
Cell Types
| Cell ontology |
Maturity |
Description |
Species |
Replicates |
Cells per replicate |
| CL_0000019: sperm |
|
|
|
|
|
Data set 2: Identification of Candidate Genes for DGAP230’s Severe Oligozoospermia
Exome: Other
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:0000798: Oligozoospermia |
1 |
Subject DGAP230, with 46,XY,t(20;22)(q13.3;q11.2) |
| HP:control |
1 |
Subject DGAP278-02, a karyotypically normal age- and sex-matched control subject. |
Data set 3: Determination of the Cytogenetic Etiology of SYCP2 Dysregulation
Genome: Other
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:0000798: Oligozoospermia |
1 |
Subject DGAP230, with 46,XY,t(20;22)(q13.3;q11.2) |
Data set 4: Analysis of the Impact of SYCP2 Misexpression on Severe Oligozoospermia
Proteome: Immunohistochemistry
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:other: Other |
|
cultures of YAM2592 (wild-type), AM4063 (wild-type), AM3762 (PGAL1-RED1), AM4282 (PGAL1-RED1), AM4283 (Δzip1), AM4284 (Δred1), and AM4286 (Δred1) |
Data set 5: Identification of Additional Male Infertility Case Subjects with SYCP2 Loss-of-Function Variants
Exome: Other
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:0030974: Cryptozoospermia |
1 |
Participant M1686: ES and subsequent validation by Sanger sequencing revealed a heterozygous deletion in exon 24 of SYCP2: c.2022_2025del causing p.Lys674AsnfsTer8 (ClinVar: SCV000920592). |
| HP:0000027: Azoospermia |
1 |
Participant M1401: Diagnosed with azoospermia, and histopathological analysis from testicular sperm extraction (TESE) revealed a phenotype of meiotic arrest at the pachytene spermatocyte stage |
