{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T02:07:37Z","timestamp":1767665257578},"reference-count":10,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2008]]},"abstract":"<jats:p>Alport syndrome (AS) and hereditary nephropathy (HN) are glomerular nephropathies caused by mutations in the genes encoding the type IV collagens. In a mixed breed of dog, termed Navasota (NAV) dogs, X-linked hereditary nephropathy (XLHN) is caused by a 10-bp deletion in exon 9 of &lt;i&gt;COL4A5&lt;\/i&gt;. Males harboring this mutation succumb to end-stage renal disease before 18 months of age. In contrast, female carriers of this disease survive much longer, most have a normal life-span, and vary in disease progression as compared with XLHN-affected males. X chromosome inactivation (XCI) patterns have been studied in human X-linked AS carriers and some have been shown to have a high degree of skewed XCI. However, similar studies have never been reported in an animal model of this disease. Therefore, patterns of XCI were examined in XLHN-carrier NAV dogs. The variation in XCI among the 26 XLHN-carrier and seven normal female NAV dogs studied was low and only three were found to preferentially inactivate one X chromosome, all of which were XLHN-carriers. The average skewedness among all dogs was 59% and 57% among the XLHN-carriers. No significant difference in XCI was found between the two groups (&lt;i&gt;P &lt;\/i&gt;= 0.477). It is clear from these data that genotype does not seem to have an effect on inactivation; the majority of these dogs have random patterns of XCI. Highly skewed X chromosome inactivation also appears to be random, given that no difference was observed between the XLHN-carriers and normal females. Because of the apparent rarity of skewed XCI, these dogs may not be a suitable model for studying a potential correlation between this phenomenon and disease progression.<\/jats:p>","DOI":"10.1159\/000151314","type":"journal-article","created":{"date-parts":[[2008,10,15]],"date-time":"2008-10-15T13:29:47Z","timestamp":1224077387000},"page":"37-40","source":"Crossref","is-referenced-by-count":6,"title":["X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs"],"prefix":"10.1159","volume":"122","author":[{"given":"R.J.","family":"Bell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.E.","family":"Lees","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.E.","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,10,14]]},"reference":[{"doi-asserted-by":"publisher","key":"ref1","DOI":"10.1126%2Fscience.2349482"},{"doi-asserted-by":"publisher","key":"ref2","DOI":"10.1172%2FJCI117862"},{"doi-asserted-by":"publisher","key":"ref3","DOI":"10.1073%2Fpnas.87.4.1606"},{"doi-asserted-by":"publisher","key":"ref4","DOI":"10.1097%2F01.ASN.0000090034.71205.74"},{"doi-asserted-by":"publisher","key":"ref5","DOI":"10.1093%2Fndt%2Fgfm024"},{"doi-asserted-by":"publisher","key":"ref6","DOI":"10.1086%2F301651"},{"doi-asserted-by":"publisher","key":"ref7","DOI":"10.1007%2Fs10142-003-0082-x"},{"doi-asserted-by":"publisher","key":"ref8","DOI":"10.1080%2F08035320600618783"},{"doi-asserted-by":"publisher","key":"ref9","DOI":"10.1093%2Fndt%2Fgfl051"},{"doi-asserted-by":"publisher","key":"ref10","DOI":"10.1136%2Fjmg.29.9.663"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/151314","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/151314","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T19:18:54Z","timestamp":1726168734000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/CGR\/article\/doi\/10.1159\/000151314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2008,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000151314","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2008]]}}}