{"doi":"10.1159/000322080","title":"Heterogeneity of Pericentric Inversions of the Human Y Chromosome","abstract":"Pericentric inversions of the human Y chromosome (inv(Y)) are the result of breakpoints in Yp and Yq. Whether these breakpoints occur recurrently on specific hotspots or appear at different locations along the repeat structure of the human Y chromosome is an open question. Employing FISH for a better definition and refinement of the inversion breakpoints in 9 cases of inv(Y) chromosomes, with seemingly unvarying metacentric appearance after banding analysis, unequivocally resulted in heterogeneity of the pericentric inversions of the human Y chromosome. While in all 9 inv(Y) cases the inversion breakpoints in the short arm fall in a gene-poor region of X-transposed sequences proximal to PAR1 and <i>SRY</i> in Yp11.2, there are clearly 3 different inversion breakpoints in the long arm. Inv(Y)-types I and II are familial cases showing inversion breakpoints that map in Yq11.23 or in Yq11.223, outside the ampliconic fertility gene cluster of <i>DAZ</i> and <i>CDY</i> in AZFc. Inv(Y)-type III shows an inversion breakpoint in Yq11.223 that splits the <i>DAZ</i> and <i>CDY</i> fertility gene-cluster in AZFc. This inversion type is representative of both familial cases and cases with spermatogenetic impairment. In a further familial case of inv(Y), with almost acrocentric morphology, the breakpoints are within the <i>TSPY</i> and <i>RBMY</i> repeat in Yp and within the heterochromatin in Yq. Therefore, the presence of specific inversion breakpoints leading to impaired fertility in certain inv(Y) cases remains an open question.","journal":"Cytogenetic and Genome Research","year":2011,"id":606420,"datarank":0.5955437870328184,"base_score":3.970291913552122,"endowment":3.970291913552122,"self_citation_contribution":0.5955437870328184,"citation_network_contribution":0.0,"self_endowment_contribution":0.5955437870328184,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":52,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1556818,"name":"J.J. Pasantes","orcid":null,"position":1,"is_corresponding":false},{"id":1556820,"name":"D.A.D. Thi","orcid":null,"position":2,"is_corresponding":false},{"id":1556822,"name":"F. Schaller","orcid":null,"position":3,"is_corresponding":false},{"id":1556824,"name":"W. Schempp","orcid":null,"position":4,"is_corresponding":false},{"id":1556816,"name":"S. Knebel","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Heterogeneity of Pericentric Inversions of the Human Y Chromosome","abstract":"Pericentric inversions of the human Y chromosome (inv(Y)) are the result of breakpoints in Yp and Yq. Whether these breakpoints occur recurrently on specific hotspots or appear at different locations along the repeat structure of the human Y chromosome is an open question. Employing FISH for a better definition and refinement of the inversion breakpoints in 9 cases of inv(Y) chromosomes, with seemingly unvarying metacentric appearance after banding analysis, unequivocally resulted in heterogeneity of the pericentric inversions of the human Y chromosome. While in all 9 inv(Y) cases the inversion breakpoints in the short arm fall in a gene-poor region of X-transposed sequences proximal to PAR1 and <i>SRY</i> in Yp11.2, there are clearly 3 different inversion breakpoints in the long arm. Inv(Y)-types I and II are familial cases showing inversion breakpoints that map in Yq11.23 or in Yq11.223, outside the ampliconic fertility gene cluster of <i>DAZ</i> and <i>CDY</i> in AZFc. Inv(Y)-type III shows an inversion breakpoint in Yq11.223 that splits the <i>DAZ</i> and <i>CDY</i> fertility gene-cluster in AZFc. This inversion type is representative of both familial cases and cases with spermatogenetic impairment. In a further familial case of inv(Y), with almost acrocentric morphology, the breakpoints are within the <i>TSPY</i> and <i>RBMY</i> repeat in Yp and within the heterochromatin in Yq. Therefore, the presence of specific inversion breakpoints leading to impaired fertility in certain inv(Y) cases remains an open question.","is_dataset_classified":null,"base_score":3.970291913552122,"endowment":3.970291913552122,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"21307635","pmcid":null,"openalex_id":"https://openalex.org/W2066043145","authors":[],"funders":[],"total_grants":0,"fwci":1.3593,"citation_percentile":0.81968443,"influential_citations":0,"citation_trend":[{"year":2012,"count":1},{"year":2013,"count":4},{"year":2015,"count":2},{"year":2016,"count":1},{"year":2017,"count":3},{"year":2018,"count":33},{"year":2019,"count":2},{"year":2021,"count":1},{"year":2025,"count":1},{"year":2026,"count":1}],"oa_status":"closed","license":"https://www.karger.com/Services/SiteLicenses","oa_locations":[{"url":"https://www.karger.com/Article/Pdf/322080","host_type":"publisher"},{"url":"https://doi.org/10.1159/000322080","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/21307635","host_type":"repository"}],"fields_of_study":["Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","Chromosomal and Genetic Variations","Genomics and Chromatin Dynamics"],"mesh_terms":["Chromosome Banding","Humans","Infant","Chromosome Inversion","Karyotyping","Male","Retrospective Studies","In Situ Hybridization, Fluorescence","Genetic Heterogeneity","Chromosomes, Human, Y"],"keywords":["Breakpoint","Chromosomal inversion","Biology","Genetics","Y chromosome","Testis determining factor","Chromosome","Gene","Karyotype"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-30T04:30:51.363056Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}