Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs

被引：163

作者：

Hillbertz, Nicolette H. C. Salmon

Isaksson, Magnus

Karlsson, Elinor K.

Hellmen, Eva

Pielberg, Gerli Rosengren

Savolainen, Peter

Wade, Claire M.

Von Euler, Henrik

Gustafson, Ulla

Hedhammar, Ake

Nilsson, Mats

Lindblad-Toh, Kerstin

Andersson, Leif

Andersson, Goran

机构：

[1] Swedish Univ Agr Sci, Ctr Biomed, Dept Anim Breeding & Genet, SE-75124 Uppsala, Sweden

[2] Uppsala Univ, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden

[3] Broad Inst Harvard, Cambridge, MA 02142 USA

[4] MIT, Cambridge, MA 02142 USA

[5] Boston Univ, Bioinformat Program, Boston, MA 02215 USA

[6] SLU, Dept Physiol Anat & Biochem, SE-75007 Uppsala, Sweden

[7] Uppsala Univ, Dept Med Biochem & Microbiol, SE-75124 Uppsala, Sweden

[8] AlbaNova Univ Ctr, Royal Inst Technol, Sch Biotechnol, SE-10691 Stockholm, Sweden

[9] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA

[10] SLU, Dept Clin Sci, SE-75007 Uppsala, Sweden

来源：

NATURE GENETICS | 2007年 / 39卷 / 11期

关键词：

D O I：

10.1038/ng.2007.4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The dorsal hair ridge in Rhodesian and Thai Ridgeback dogs is caused by a dominant mutation that also predisposes to the congenital developmental disorder dermoid sinus. Here we show that the causative mutation is a 133-kb duplication involving three fibroblast growth factor (FGF) genes. FGFs play a crucial role in development, suggesting that the ridge and dermoid sinus are caused by dysregulation of one or more of the three FGF genes during development.

引用

页码：1318 / 1320

页数：3

共 16 条

[1] Spinal congenital dermal sinuses: A 30-year experience [J].

Ackerman, LL ;

Menezes, AH .

PEDIATRICS, 2003, 112 (03) :641-647

[2] The genetic basis of mammalian neurulation [J].

Copp, AJ ;

Greene, NDE ;

Murdoch, JN .

NATURE REVIEWS GENETICS, 2003, 4 (10) :784-793

[3]

ELTON S, 2001, NEUROSURG FOCUS, V10, P1

[4]

HALL S, 2003, DOGS AFRICA, P123

[5] Autosomal dominant mutation causing the dorsal ridge predisposes for dermoid sinus in Rhodesian ridgeback dogs [J].

Hillbertz, NHCS ;

Andersson, G .

JOURNAL OF SMALL ANIMAL PRACTICE, 2006, 47 (04) :184-188

[6] Inheritance of dermoid sinus in the Rhodesian ridgeback [J].

Hillbertz, NHCS .

JOURNAL OF SMALL ANIMAL PRACTICE, 2005, 46 (02) :71-74

[7] High-resolution mapping of the 11q13 amplicon and identification of a gene, TAOS1, that is amplified and overexpressed in oral cancer cells [J].

Huang, X ;

Gollin, SM ;

Raja, S ;

Godfrey, TE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (17) :11369-11374

[8]

ISAKSSONM, 2007, NUCLEIC ACIDS RES, DOI DOI 10.1093/NAR/GKM651

[9] Efficient mapping of mendelian traits in dogs through genome-wide association [J].

Karlsson, Elinor K. ;

Baranowska, Izabella ;

Wade, Claire M. ;

Salmon Hillbertz, Nicolette H. C. ;

Zody, Michael C. ;

Anderson, Nathan ;

Biagi, Tara M. ;

Patterson, Nick ;

Pielberg, Gerli Rosengren ;

Kulbokas, Edward J., III ;

Comstock, Kenine E. ;

Keller, Evan T. ;

Mesirov, Jill P. ;

von Euler, Henrik ;

Kampe, Olle ;

Hedhammar, Ake ;

Lander, Eric S. ;

Andersson, Ran ;

Andersson, Leif ;

Lindblad-Toh, Kerstin .

NATURE GENETICS, 2007, 39 (11) :1321-1328

[10]

Ornitz DM, 2001, GENOME BIOL, V2

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