Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs

Cleft Palate-Craniofacial Journal

Volumn 46, Issue 1, 2009, Pages 81-88

  Kemp, Cordula ^a,b   Thiele, Holger ^c   Dankof, Anja ^d   Schmidt, Gül ^e   Lauster, Carola ^f   Fernahl, Gabriele ^d   Lauster, Roland ^b  

^a CNRS   (France)

^b TECHNISCHE UNIVERSITÄT BERLIN   (Germany)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d Institute for Pathology   (Germany)

^e Center for Cleft Lip and Cleft Palate   (Germany)

^f Clinic for Maxillofacial Surgery   (Germany)

Author keywords

CL P; CP; Linkage analysis; Monogenic autosomal recessive; Pedigree analysis

Indexed keywords

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; CLEFT LIP; CLEFT PALATE; DNA ISOLATION; DOG; FEMALE; GENE SEQUENCE; GENETIC LINKAGE; HISTOPATHOLOGY; MALE; NONHUMAN; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SIBLING;

ANIMALS; CLEFT LIP; CLEFT PALATE; DOG DISEASES; DOGS; FEMALE; FOLLISTATIN; GENES, RECESSIVE; HOMEODOMAIN PROTEINS; INHIBIN-BETA SUBUNITS; LINKAGE (GENETICS); MALE; MSX1 TRANSCRIPTION FACTOR; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS; TRANSFORMING GROWTH FACTOR BETA3;

EID: 58149466039     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/06-229.1     Document Type: Article

References (29)

1. Carter CO, Evans K, Coffey R, Roberts JA, Buck A, Roberts MF. A family study of isolated cleft palate. J Med Genet. 1982a;5:329-331.
2. Carter CO, Evans K, Coffey R, Roberts JA, Buck A, Roberts MF. A three-generation family study of cleft lip with or without cleft palate. J Med Genet. 1982b;4:246-261.
3. Carver EA, Jiang R, Lan Y, Oram KF. Gridley T. The mouse Snail gene encodes a key regulator of the epithelial-mesenchymal transition. Mol Cell Biol. 2001;21:8184-8188.
4. Curtis EJ, Fraser FC, Warburton D. Congenital cleft lip and palate. Am J Dis Child. 1961; 102:853-857.
5. Dudas M, Li WY, Kim J, Yang A, Kaartinen V. Palatal fusion-where do the midline cells go? A review on cleft palate, a major human birth defect. Acta Histochem. 2007;109:1-14.
6. Guyon R, Lorentzen TD, Hitte C, Kim L, Cadieu E, Parker HG, Quignon P, Lowe JK, Renier C, Oelfenbeyn B, et al. A 1-Mb resolution radiation hybrid map of the canine genome. Proc Nutl Acud Sci USA. 2003;9:5296-5301.
7. Hinrichsen K. The early development of morphology and patterns of the face in the human embryo. Adv Anat Embryol Cell Biol. 1985;98:1-79.
8. Jiang R, Bush JO, Lidral AC. Development of the upper lip: morphogenetic and molecular mechanisms. Dev Dyn. 2006;235: 1152-1166.
9. Kaartinen V, Voncken JW, Shuler C, Warburton D, Bu D, Heisterkamp N, Groffen J. Abnormal lung development and cleft palate in mice lacking TGF-beta3 indicates defects of epithelial-mesenchymal interaction. Nat Genet. 1995;11:415-421.
10. Kriens O. LAHSHAL. A concise documentation system for cleft lip, alveolus, and palate diagnoses. In: Kriens O, ed. What Is a Cleft Lip and Palate? A Multidisciplinary Update. Stuttgart, Germany: Thieme; 1989;30-34.
11. Kraglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 1996;6:1347-1363.
12. La Gamba D, Nawshad A, Hay ED. Microarray analysis of gene expression during epithelial mesenchymal transformation. Dev Dyn. 2005;234:132-142.
13. Lowry RB. Sex-linked cleft palate in a British Columbia Indian family. Pediatrics. 1970;46:123-128.
14. Matzuk MM, Kumar TR, Vassalli A, Bickenbach JR, Roop DR, Jaenisch R, Bradley A. Functional analysis of activins during mammalian development. Nature. 1995a;374:354-356.
15. Matzuk MM, Lu N, Vogel H, Sellheyer K, Roop DR, Bradley A. Multiple defects and perinatal death in mice deficient in follistatin. Nature. 1995b;374:360-363.
16. Nogai H, Rosowski M, Griin J, Rietz A, Debus N, Schmidt G, Lauster C, Janitz M, Vortkamp A, Lauster R. Follistatin antagonizes TGF-p3-induced epithelial-mesenchymal transition in vitro: implications for murine palatal development supported by microarray analysis. Differentiation [E-pub ahead of print]. 2007.
17. Ophof R, Maltha JC, Kuijpers-Jagtman AM, Von Den Hoff JW. Evaluation of a collagen-glycosaminoglycan dermal substitute in the dog palate. Tissue Eng. 2007;13:2689-2698.
18. Ostrander EA, Kruglyak L. Unleashing the canine genome. Genome Res. 2000;10:1271-1274.
19. Ray AK, Field LL, Marazita ML. Nonsyndromic cleft lip with or without cleft palate in West Bengal, India: evidence for an autosomal major locus. Am J Hum Genet. 1993;52:1006-1011.
20. Richtsmeier JT, Sack GH, Grausz HM. Cork LC. Cleft palate with autosomal recessive transmission in Brittany spaniels. Cleft Palate Craniofac J. 1994;5:364-371.
21. Rushton AR. Sex-linked inheritance of cleft palate. Hum Genet. 1979;48:179-181.
22. Satokata I, Maas R. Msxl-deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet. 1994;6:348-356.
23. Schutte BC, Murray JC. The many faces and factors of orofacial clefts. Hum Mol Genet. 1990;8:1853-1859.
24. Senders CW, Eisele P, Freeman LE, Sponenberg DP. Observations about the normal and abnormal embryogenesis of the canine lip and palate. J Craniofac Genet Dev Biol Suppl. 1986;2:241-248.
25. Shu W, Jiang YQ, Lu MM, Morrisey EE. Wnt7b regulates mesenchymal proliferation and vascular development in the lung. Development. 2002;129:4831-4842.
26. Thiele H, Niirnberg P. Haplopainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics. 2005;8:1730-1732.
27. Vaziri Sani F, Hallberg K, Fiarfe BD, McMahon AP, Linde A, Gritli-Linde A. Fate-mapping of the epithelial seam during palatal fusion rules out epithelial-mesenchymal transformation. Dev Biol. 2005;285: 490-495.
28. Wang Y, Shi B, Li Y, Zheng Q, Deng DZ. Comparative study of maxillary growth and occlusal outcome after autogenous rib grafting in complete cleft palate defect. J Craniofac Surg. 2006;17:68-79.
29. Zhao Y, Guo YJ, Tomac AC, Taylor NR, Grinberg A, Lee EJ, Huang S, Westphal H. Isolated cleft palate in mice with a targeted mutation of the LIM homeobox gene Ihx8. Proc Natl Acad Sci USA. 1999;96: 15002-15006.