@prefix dcat: <http://www.w3.org/ns/dcat#> .
@prefix dct: <http://purl.org/dc/terms/> .
@prefix foaf: <http://xmlns.com/foaf/0.1/> .
@prefix vcard: <http://www.w3.org/2006/vcard/ns#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<https://rec.harvest-normandie.data4citizen.com/dataset/oai-hal-tel-00872193v1> a dcat:Dataset ;
    dct:description """
              Performing a genome wide scan by SNP microarray on a Jordanian consanguineous family where five brothers were diagnosed with complete globozoospermia, we show in a first study that the four out of five analysed infertile brothers carried a homozygous deletion of 200 kb on chromosome 12 encompassing only DPY19L2. The gene encodes for a transmembrane protein and is surrounded by two low copy repeats (LCRs). Very similar deletions were found in three additional unrelated patients. Later, we have pursued our patient screen by recruiting a largest cohort of patients. Out of a total of 54 patients analysed, 36 (66.7%) showed a mutation in DPY19L2. Out of 36 mutated patients, 20 are homozygous deleted, 7 heterozygous composite and 4 showed a homozygous point mutation. We characterized a total of nine breakpoints that clustered in two recombination hotspots, both containing direct repeat elements. These findings confirm that the deletion is due to a nonallelic homologous recombination (NAHR) between the two LCRs. Thus, Globozoospermia can be considered as a new genomic disorder. This study confirms that DPY19L2 is the major gene responsible for globozoospermia and enlarges the spectrum of possible mutations in the gene.
            """ ;
    dct:identifier "NNT: 2012STRAJ120" ;
    dct:issued "2026-05-09T09:51:30.456401"^^xsd:dateTime ;
    dct:language "en" ;
    dct:modified "2026-05-09T09:51:30.456406"^^xsd:dateTime ;
    dct:publisher <https://rec.harvest-normandie.data4citizen.com/organization/cce9db95-46d9-4dc2-84b6-764215d0a002> ;
    dct:title "Human genetics of male infertility" ;
    dcat:contactPoint [ a vcard:Organization ;
            vcard:fn "CCSD" ] ;
    dcat:distribution <https://rec.harvest-normandie.data4citizen.com/dataset/oai-hal-tel-00872193v1/resource/e703948b-d4e1-4d95-ab10-452ccf6b3987> ;
    dcat:keyword "dpy19l2",
        "globozoospermia",
        "globozoospermie",
        "hotspots",
        "infoeu-reposemanticsdoctoralthesis",
        "lcr",
        "nahr",
        "sdvbbmgtplife-sciences-q-biobiochemistry-molecular-biologygenomics-q-biogn",
        "spata16",
        "theses" ;
    dcat:landingPage <https://theses.hal.science/tel-00872193> .

<https://rec.harvest-normandie.data4citizen.com/dataset/oai-hal-tel-00872193v1/resource/e703948b-d4e1-4d95-ab10-452ccf6b3987> a dcat:Distribution ;
    dct:format "HTML" ;
    dct:issued "2026-05-09T09:51:30.477645"^^xsd:dateTime ;
    dct:modified "2026-05-09T09:51:30.444430"^^xsd:dateTime ;
    dct:title "Human genetics of male infertility" ;
    dcat:accessURL <https://theses.hal.science/tel-00872193> .

<https://rec.harvest-normandie.data4citizen.com/organization/cce9db95-46d9-4dc2-84b6-764215d0a002> a foaf:Agent ;
    foaf:name "test_moissonnage_selune" .

<https://theses.hal.science/tel-00872193> a foaf:Document .