{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T22:23:24Z","timestamp":1789943004822,"version":"4.0.1"},"reference-count":55,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>It is generally assumed that most mammalian genes are transcribed from both alleles. Hence, the diploid state of the genome offers the advantage that a loss-of-function mutation in one allele can be compensated for by the remaining wild-type allele of the same gene. Indeed, the vast majority of human disease syndromes and engineered mutations in the mouse genome are recessive, indicating that recessiveness is the \u2018default\u2019 state. However, a minority of genes are semi-dominant, as heterozygous loss-of-function mutation in these genes leads to phenotypic abnormalities. This condition, known as haploinsufficiency, has been described for five of the nine mammalian<\/jats:p>","DOI":"10.1515\/bc.1999.077","type":"journal-article","created":{"date-parts":[[2004,10,5]],"date-time":"2004-10-05T10:28:28Z","timestamp":1096972108000},"source":"Crossref","is-referenced-by-count":33,"title":["Monoallelic Expression of Pax5: A Paradigm for the Haploinsufficiency of Mammalian Pax Genes?"],"prefix":"10.1515","volume":"380","author":[{"given":"S.L.","family":"Nutt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Busslinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref561","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1046\/j.1365-2443.1996.d01-276.x","article-title":"Random and imprinted monoallelic expression","volume":"1","author":"Watanabe","year":"1996","journal-title":"Genes Cells"},{"key":"ref571","first-page":"377","article-title":"Transcription complex stability and chromatin dynamics in vivo","author":"Wijgerde","year":"1995","journal-title":"Nature"},{"key":"ref611","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.4049\/jimmunol.147.4.1424","article-title":"Structure and domain organization of the CD antigen of hu - man mouse and guinea pig B lymphocytes","volume":"19","author":"Zhou","year":"1991","journal-title":"Immunol"},{"key":"ref31","first-page":"355","article-title":"da sky An exonic mutation in the HuP paired domain gene causes Waardenburg s syndrome","volume":"2","author":"Baldwin","year":"1992","journal-title":"Nature"},{"key":"ref241","first-page":"279","article-title":"Monoallelic expression of the interleukin - locus","author":"Holl\u00e4nder","year":"1998","journal-title":"Science"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/0959-437X(93)90095-7","article-title":"Evolution and role of Pax genes","volume":"3","author":"Noll","year":"1993","journal-title":"Curr Opin Genet Dev"},{"key":"ref541","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/BF00178590","article-title":"Bus - The PAX gene : a linkage and mutation analysis in candidate human primary im - munodeficiencies","volume":"5","author":"Vorechovsky","year":"1995","journal-title":"Immunogenet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/0092-8674(94)90077-9","article-title":"van van der te and A proteins are required for proper B cell de - velopment and initiation of immunoglobulin gene rearrange - ments","volume":"79","author":"Bain","year":"1994","journal-title":"Cell"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1093\/emboj\/17.8.2319","article-title":"Identification of BSAP ) target genes in early cell development by loss - and gain - of - function experi - ments","volume":"5","author":"Nutt","year":"1998","journal-title":"EMBO J"},{"key":"ref521","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1016\/0092-8674(94)90079-5","article-title":"Complete block of early B cell differentiation and al - tered patterning of the posterior midbrain in mice lacking Pax","volume":"79","author":"Urb\u00e1nek","year":"1994","journal-title":"BSAP Cell"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/S0092-8674(00)80258-5","article-title":"to Targeted disruption of Cbfa results in a complete lack of bone formation owing to maturational arrest of os - teoblasts","volume":"1","author":"Komori","year":"1997","journal-title":"Cell"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1016\/0092-8674(86)90818-4","article-title":"Conservation of a large protein domain in the segmen - tation gene paired and in functionally related genes of Droso - phila","volume":"47","author":"Bopp","year":"1986","journal-title":"Cell"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/S0092-8674(94)90562-2","article-title":"Allelic inacti - vation regulates olfactory receptor gene expression","volume":"78","author":"Chess","year":"1994","journal-title":"Cell"},{"key":"ref361","first-page":"476","article-title":"Essential functions of Pax in pro - B cell development : difference between fetal and adult B lymphopoiesis and re - duced V - to - DJ recombination at the IgH locus Genes","volume":"5","author":"Nutt","year":"1997","journal-title":"Dev"},{"key":"ref401","first-page":"89","article-title":"Cbfa a candidate gene for cleidocranial dysplasia syndrome , is essen - tial for osteoblast differentiation and bone development","volume":"1","author":"Otto","year":"1997","journal-title":"Cell"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/ng0495-333","article-title":"Pax genes Paired feet in three camps","volume":"9","author":"Read","year":"1995","journal-title":"Nature Genet"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"2876","DOI":"10.1002\/eji.1830271120","article-title":"Expression of the Ly A gene in murine natural killer cell clones is predominantly but not ex - clusively mono - allelic","volume":"49","author":"Held","year":"1997","journal-title":"Eur J Immunol"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/ng0594-5","article-title":"Human haploinsufficiency one for sorrow , two for joy","volume":"7","author":"Fisher","year":"1994","journal-title":"Nature Genet"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/S0952-7915(97)80080-5","article-title":"Natural killer cell receptors Curr","volume":"9","author":"Long","year":"1997","journal-title":"Opin Immunol"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/S0168-9525(00)89073-3","article-title":"van Pax : more than meets the eye","volume":"11","author":"Hanson","year":"1995","journal-title":"Trends Genet"},{"key":"ref231","first-page":"354","article-title":"and van Heynin - gen Mouse Small eye results from mutations in a paired - like homeobox - containing gene","author":"Hill","year":"1991","journal-title":"Nature"},{"key":"ref111","first-page":"2048","article-title":"DNA se - quence recognition by Pax proteins : bipartite structure of the paired domain and its binding site Genes","volume":"7","author":"Czerny","year":"1993","journal-title":"Dev"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1006\/geno.1994.1506","article-title":"and Kidney and retinal defects a trans - gene - induced mutation with a deletion of mouse chromosome that includes the Pax locus","volume":"23","author":"Keller","year":"1994","journal-title":"Genomics"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S1074-7613(00)80319-2","article-title":"van der The Ig enhancer influences the ratio of Ig versus Ig B lymphocytes","volume":"5","author":"Gorman","year":"1996","journal-title":"Immunity"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1006\/smim.1998.0116","article-title":"The role of E - proteins in B - and T - lymphocyte development","volume":"10","author":"Bain","year":"1998","journal-title":"Sem Immunol"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1146\/annurev.neuro.20.1.483","article-title":"in devel - opment and evolution","volume":"6","author":"Callaerts","year":"1997","journal-title":"Annu Rev Neurosci"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng0598-83","article-title":"to Di PAX mutations associated with congenital hypothyroidism caused by thyroid dysgenesis","volume":"19","author":"Macchia","year":"1998","journal-title":"Nature Genet"},{"key":"ref591","doi-asserted-by":"crossref","first-page":"8692","DOI":"10.1073\/pnas.95.15.8692","article-title":"Targeted disruption of Pax defines its null phenotype and proves hap - loinsufficiency","volume":"1","author":"Wilm","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref581","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmg.31.2.89","article-title":"The molecular basis of genetic dominance","volume":"31","author":"Wilkie","year":"1994","journal-title":"Med Genet"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/0092-8674(94)90078-7","article-title":"Constitutive expression of the Id gene impairs mouse B cell development","volume":"1","author":"Sun","year":"1994","journal-title":"Cell"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/S0092-8674(00)80078-1","article-title":"van Influence of PAX gene dosage on development : overexpression causes severe eye abnormalities","volume":"6","author":"Schedl","year":"1996","journal-title":"Cell"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"2662","DOI":"10.1128\/MCB.12.6.2662","article-title":"The promoter of the CD gene is a target for the B - cell - specific transcription factor BSAP","volume":"19","author":"Kozmik","year":"1992","journal-title":"Mol Cell Biol"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1038\/7720","article-title":"Independent regulation of the two Pax alleles during B - cell development","volume":"21","author":"Nutt","year":"1999","journal-title":"Nature Genet"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/S0092-8674(00)80260-3","article-title":"Mutations involving the transcription factor CBFA cause cleidocranial dysplasia","volume":"89","author":"Mundlos","year":"1997","journal-title":"Cell"},{"key":"ref501","first-page":"355","article-title":"Waardenburg s syndrome patients have mutations in the human homologue of the Pax - paired box gene","volume":"3","author":"Tassabehji","year":"1992","journal-title":"Nature"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/S0955-0674(96)80087-1","article-title":"Pax genes and their roles in cell differentiation and development","volume":"8","author":"Mansouri","year":"1996","journal-title":"Curr Opin Cell Biol"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S0091-679X(08)60569-5","article-title":"Fluores - cent detection of nuclear RNA and DNA : Implications for genome organization","volume":"35","author":"Johnson","year":"1991","journal-title":"Methods Cell Biol"},{"key":"ref421","first-page":"264","article-title":"Sex determination and dosage compensation : lessons from flies and worms","author":"Parkhurst","year":"1994","journal-title":"Science"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/0092-8674(92)90168-C","article-title":"Genetic analysis of genomic imprinting : an imprintor - gene controls inactivation of the pa - ternal copy of the mouse Tme locus","volume":"1","author":"Forejt","year":"1992","journal-title":"Cell"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/ng0797-307","article-title":"Mis - sense mutations abolishing DNA binding of the osteoblast - specific transcription factor OSF CBFA in cleidocranial dys - plasia","volume":"2","author":"Lee","year":"1997","journal-title":"Nature Genet"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1101\/gad.11.6.774","article-title":"Multilineage gene expression precedes commitment in the hematopoietic system","volume":"11","author":"Hu","year":"1997","journal-title":"Genes Dev"},{"key":"ref551","first-page":"113","article-title":"a murine paired box gene , is expressed in the developing CNS","volume":"6","author":"Walther","year":"1991","journal-title":"Development"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/376355a0","article-title":"Allelic exclusion of Ly - family genes encoding class I MHC - specific receptors on NK cells","volume":"376","author":"Held","year":"1995","journal-title":"Nature"},{"key":"ref41","first-page":"270","article-title":"Gametic imprinting in mammals","author":"Barlow","year":"1995","journal-title":"Science"},{"key":"ref511","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/0092-8674(91)90284-6","article-title":"van Positional cloning and characterization of a paired box - and homeobox - containing gene from the aniridia region","volume":"67","author":"Ton","year":"1991","journal-title":"Cell"},{"key":"ref601","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/0092-8674(95)90518-9","article-title":"Crystal structure of the paired domain - DNA complex at resolution reveals structural basis for Pax developmental mu - tations","volume":"80","author":"Xu","year":"1995","journal-title":"Cell"},{"key":"ref51","first-page":"281","article-title":"Independent and epigentic regulation of the interleukin - alleles in CD T cells","volume":"4","author":"Bix","year":"1998","journal-title":"Science"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1101\/gad.10.16.1991","article-title":"DNA hypomethylation can activate Xist expression and silence X - linked genes","volume":"10","author":"Panning","year":"1996","journal-title":"Genes Dev"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"6129","DOI":"10.1073\/pnas.93.12.6129","article-title":"Deregulation of PAX - by translocation of the E en - hancer of the IgH locus adjacent to two alternative PAX - pro - moters in a diffuse large - cell lymphoma","volume":"5","author":"Busslinger","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/(SICI)1521-4141(199808)28:08<2407::AID-IMMU2407>3.0.CO;2-D","article-title":"An allele - specific , stochastic gene expression process controls the expression of multiple Ly family genes and generates a diverse - specific NK cell receptor repertoire","volume":"28","author":"Held","year":"1998","journal-title":"Eur J Immunol"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/ng0294-168","article-title":"van Mu tations at the PAX locus are found in heterogeneous anterior segment malformations including Peters anomaly","volume":"6","author":"Hanson","year":"1994","journal-title":"Nature Genet"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/0959-437X(94)90032-9","article-title":"PAX genes","volume":"4","author":"Strachan","year":"1994","journal-title":"Curr Opin Genet Dev"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/S0959-437X(96)80011-6","article-title":"van Transcription fac - tors in disease","volume":"6","author":"Engelkamp","year":"1996","journal-title":"Curr Opin Genet Dev"},{"key":"ref161","first-page":"258","article-title":"Ikaros , an early lymphoid - specific transcription factor and a putative me - diator for T cell commitment","author":"Georgopoulos","year":"1992","journal-title":"Science"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/0168-9525(93)90138-8","article-title":"The Drosophila sex determination signal : how do flies count to two","volume":"9","author":"Cline","year":"1993","journal-title":"Tends Genet"}],"container-title":["Biological Chemistry"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/bchm.1999.380.issue-6\/bc.1999.077\/bc.1999.077.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/BC.1999.077\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,14]],"date-time":"2024-01-14T14:21:47Z","timestamp":1705242107000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/BC.1999.077\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,1,1]]},"references-count":55,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1515\/bc.1999.077","relation":{},"ISSN":["1437-4315","1431-6730"],"issn-type":[{"value":"1437-4315","type":"electronic"},{"value":"1431-6730","type":"print"}],"subject":[],"published":{"date-parts":[[1999,1,1]]}}}