PMID- 19037915 OWN - NLM STAT- MEDLINE DCOM- 20090129 LR - 20211020 IS - 1365-3164 (Electronic) IS - 0959-4493 (Print) IS - 0959-4493 (Linking) VI - 19 IP - 6 DP - 2008 Dec TI - The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears. PG - 358-67 LID - 10.1111/j.1365-3164.2008.00709.x [doi] AB - The mouse In(15)2Rl (hairy ears, Eh) mutation is a paracentric inversion of the distal half of chromosome 15 (Chr 15). Heterozygous Eh/+ mice display misshaped and hairy ears that have more and longer hair than the ears of their wild-type littermates. We mapped, cloned and sequenced both inversion breakpoints. No protein-coding transcript was disrupted by either breakpoint. The proximal breakpoint is located between syntrophin basic 1 (Sntb1) and hyaluronan synthase 2 (Has2), and the distal breakpoint maps between homeobox C4 (Hoxc4) and single-strand selective monofunctional uracil DNA glycosylase (Smug1), near the middle and the telomere ends of Chr 15, respectively. The inversion spans ~47 megabases. Our genetic analysis suggests that the hairy-ear phenotype is caused by the proximal breakpoint of the inversion-bearing Chr 15. Quantitative RNA analysis by real-time polymerase chain reaction for the genes flanking the breakpoint indicated no changes in expression levels except for some homeobox C (Hoxc) genes whose expression was elevated in developing and mature skin of the ears but not of other body regions. The increased hair length on the ears of Eh/+ mice was due to an extension of the anagen stage in the hair cycle, as determined by histological analysis. Our data indicate that the Eh phenotype arises from mis-expression of Hoxc genes. FAU - Mentzer, Sarah E AU - Mentzer SE AD - Mammalian Genetics and Genomics Group, Life Sciences Division, Oak Ridge National Laboratory, PO Box 2008, Bethel Valley Road, Oak Ridge, TN 37831-6445, USA. FAU - Sundberg, John P AU - Sundberg JP FAU - Awgulewitsch, Alexander AU - Awgulewitsch A FAU - Chao, Hanna H J AU - Chao HH FAU - Carpenter, Donald A AU - Carpenter DA FAU - Zhang, Wei-Dong AU - Zhang WD FAU - Rinchik, Eugene M AU - Rinchik EM FAU - You, Yun AU - You Y LA - eng GR - CA34196/CA/NCI NIH HHS/United States GR - AR000173/AR/NIAMS NIH HHS/United States GR - R01 AR017346/AR/NIAMS NIH HHS/United States GR - R01 AR017346-38/AR/NIAMS NIH HHS/United States GR - P30 CA034196/CA/NCI NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. DEP - 20081114 PL - England TA - Vet Dermatol JT - Veterinary dermatology JID - 9426187 RN - 0 (Homeodomain Proteins) RN - 0 (Hoxc4 protein, mouse) SB - IM MH - Animals MH - Chromosome Inversion/*genetics MH - Chromosome Mapping MH - Cloning, Molecular MH - Ear/*physiology MH - Female MH - Gene Expression Regulation/*genetics MH - Genotype MH - Hair/*growth & development/ultrastructure MH - Homeodomain Proteins/*genetics/metabolism MH - Male MH - Mice MH - Mutation PMC - PMC3061202 MID - NIHMS236111 COIS- Conflict of interest - None declared EDAT- 2008/11/29 09:00 MHDA- 2009/01/30 09:00 PMCR- 2011/03/19 CRDT- 2008/11/29 09:00 PHST- 2008/11/29 09:00 [pubmed] PHST- 2009/01/30 09:00 [medline] PHST- 2008/11/29 09:00 [entrez] PHST- 2011/03/19 00:00 [pmc-release] AID - VDE709 [pii] AID - 10.1111/j.1365-3164.2008.00709.x [doi] PST - ppublish SO - Vet Dermatol. 2008 Dec;19(6):358-67. doi: 10.1111/j.1365-3164.2008.00709.x. Epub 2008 Nov 14.