{"doi":"10.1101/gad.281162.116","title":"Female mice lacking Xist RNA show partial dosage compensation and survive to term","abstract":"<jats:p>\n                    X-chromosome inactivation (XCI) compensates for differences in X-chromosome number between male and female mammals. XCI is orchestrated by Xist RNA, whose expression in early development leads to transcriptional silencing of one X chromosome in the female. Knockout studies have established a requirement for\n                    <jats:italic>Xist</jats:italic>\n                    with inviability of female embryos that inherit an\n                    <jats:italic>Xist</jats:italic>\n                    deletion from the father. Here, we report that female mice lacking Xist RNA can, surprisingly, develop and survive to term.\n                    <jats:italic>Xist</jats:italic>\n                    -null females are born at lower frequency and are smaller at birth, but organogenesis is mostly normal. Transcriptomic analysis indicates significant overexpression of hundreds of X-linked genes across multiple tissues. Therefore,\n                    <jats:italic>Xist</jats:italic>\n                    -null mice can develop to term in spite of a deficiency of dosage compensation. However, the degree of X-autosomal dosage imbalance was less than anticipated (1.14-fold to 1.36-fold). Thus, partial dosage compensation can be achieved without\n                    <jats:italic>Xist</jats:italic>\n                    , supporting the idea of inherent genome balance. Nevertheless, to date, none of the mutant mice has survived beyond weaning stage. Sudden death is associated with failure of postnatal organ maturation. Our data suggest Xist-independent mechanisms of dosage compensation and demonstrate that small deviations from X-autosomal balance can have profound effects on overall fitness.\n                  </jats:p>","journal":"Genes &amp; Development","year":2016,"id":595605,"datarank":0.6766289259775276,"base_score":4.51085950651685,"endowment":4.51085950651685,"self_citation_contribution":0.6766289259775276,"citation_network_contribution":0.0,"self_endowment_contribution":0.6766289259775276,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":90,"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":262692,"name":"James E. Kirby","orcid":"0000-0003-0392-4500","position":1,"is_corresponding":false},{"id":344853,"name":"Hongjae Sunwoo","orcid":"0000-0001-8321-6269","position":2,"is_corresponding":false},{"id":208747,"name":"Jeannie T. Lee","orcid":"0000-0001-7786-8850","position":3,"is_corresponding":false},{"id":1469351,"name":"Lin Yang","orcid":"0000-0002-8344-3100","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Female mice lacking Xist RNA show partial dosage compensation and survive to term","abstract":"<jats:p>\n                    X-chromosome inactivation (XCI) compensates for differences in X-chromosome number between male and female mammals. XCI is orchestrated by Xist RNA, whose expression in early development leads to transcriptional silencing of one X chromosome in the female. Knockout studies have established a requirement for\n                    <jats:italic>Xist</jats:italic>\n                    with inviability of female embryos that inherit an\n                    <jats:italic>Xist</jats:italic>\n                    deletion from the father. Here, we report that female mice lacking Xist RNA can, surprisingly, develop and survive to term.\n                    <jats:italic>Xist</jats:italic>\n                    -null females are born at lower frequency and are smaller at birth, but organogenesis is mostly normal. Transcriptomic analysis indicates significant overexpression of hundreds of X-linked genes across multiple tissues. Therefore,\n                    <jats:italic>Xist</jats:italic>\n                    -null mice can develop to term in spite of a deficiency of dosage compensation. However, the degree of X-autosomal dosage imbalance was less than anticipated (1.14-fold to 1.36-fold). Thus, partial dosage compensation can be achieved without\n                    <jats:italic>Xist</jats:italic>\n                    , supporting the idea of inherent genome balance. Nevertheless, to date, none of the mutant mice has survived beyond weaning stage. Sudden death is associated with failure of postnatal organ maturation. Our data suggest Xist-independent mechanisms of dosage compensation and demonstrate that small deviations from X-autosomal balance can have profound effects on overall fitness.\n                  </jats:p>","is_dataset_classified":null,"base_score":4.51085950651685,"endowment":4.51085950651685,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"27542829","pmcid":"PMC5002979","openalex_id":"https://openalex.org/W2517978842","authors":[],"funders":[{"funder_name":"National Institutes of Health","grant_id":"DA-R01-36895","title":null},{"funder_name":"NIDA NIH HHS","grant_id":"R01 DA036895","title":null},{"funder_name":"Agency for Science, Technology, and Research","grant_id":"","title":null},{"funder_name":"Rett Syndrome Research Trust","grant_id":"","title":null}],"total_grants":4,"fwci":null,"citation_percentile":null,"influential_citations":1,"citation_trend":[{"year":2016,"count":1},{"year":2017,"count":12},{"year":2018,"count":6},{"year":2019,"count":6},{"year":2020,"count":11},{"year":2021,"count":17},{"year":2022,"count":6},{"year":2023,"count":9},{"year":2024,"count":10},{"year":2025,"count":12}],"oa_status":"gold","license":"cc-by-nc","oa_locations":[{"url":"http://genesdev.cshlp.org/content/30/15/1747.full.pdf","host_type":"journal"},{"url":"http://genesdev.cshlp.org/content/30/15/1747.full.pdf","host_type":"GOLD"},{"url":"http://genesdev.cshlp.org/content/30/15/1747.full.pdf","host_type":"publisher"},{"url":"https://syndication.highwire.org/content/doi/10.1101/gad.281162.116","host_type":"publisher"},{"url":"https://doi.org/10.1101/gad.281162.116","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/27542829","host_type":"repository"},{"url":"http://genesdev.cshlp.org/cgi/content/short/30/15/1747","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5002979","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC5002979","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC5002979?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","Animal Genetics and Reproduction","CRISPR and Genetic Engineering","Biology","Medicine"],"mesh_terms":["Animals","Dosage Compensation, Genetic","Female","Male","Myocardium","Spleen","X Chromosome","Survival Analysis","Sequence Deletion","Gene Expression Regulation, Developmental","Embryonic Development","X Chromosome Inactivation","Mice","RNA, Long Noncoding"],"keywords":["XIST","Dosage compensation","Biology","X-inactivation","X chromosome","RNA","Genetics","Gene","Cell biology","Knockout Mouse","Transcriptomics","Inverse Effect","X Inactivation","Genome Balance"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Gender equality"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"geo"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-27T17:41:40.747142Z","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":[]}