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Novel cleft susceptibility genes in chromosome 6q

Letra, A and Menezes, R and Fonseca, RF and Govil, M and McHenry, T and Murphy, MJ and Hennebold, JD and Granjeiro, JM and Castilla, EE and Orioli, IM and Martin, R and Marazita, ML and Bjork, BC and Vieira, AR (2010) Novel cleft susceptibility genes in chromosome 6q. Journal of Dental Research, 89 (9). 927 - 932. ISSN 0022-0345

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Abstract

Cleft lip/palate is a defect of craniofacial development. In previous reports, chromosome 6q has been suggested as a candidate region for cleft lip/palate. A multipoint posterior probability of linkage analysis of multiplex families from the Philippines attributed an 88% probability of harboring a cleft-susceptibility gene to a narrower region on bands 6q14.2-14.3. We genotyped 2732 individuals from families and unrelated individuals with and without clefts to investigate the existence of possible cleft-susceptibility genes in this region. We found association of PRSS35 and SNAP91 genes with cleft lip/palate in the case-control cohort and in Caucasian families. Haplotype analyses support the individual associations with PRSS35. We found Prss35 expression in the head and palate of mouse embryos at critical stages for palatogenesis, whereas Snap91 was expressed in the adult brain. We provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate gene. © International & American Associations for Dental Research.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Letra, A
Menezes, R
Fonseca, RF
Govil, M
McHenry, T
Murphy, MJ
Hennebold, JD
Granjeiro, JM
Castilla, EE
Orioli, IM
Martin, R
Marazita, MLmarazita@pitt.eduMARAZITA
Bjork, BC
Vieira, ARalexandre_vieira@pitt.eduARV11
Date: 1 September 2010
Date Type: Publication
Journal or Publication Title: Journal of Dental Research
Volume: 89
Number: 9
Page Range: 927 - 932
DOI or Unique Handle: 10.1177/0022034510370004
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0022-0345
MeSH Headings: Animals; Brazil; Case-Control Studies; Chi-Square Distribution; Chromosomes, Human, Pair 6; Cleft Lip--genetics; Cleft Palate--genetics; Databases, Genetic; European Continental Ancestry Group--genetics; Gene Frequency; Genetic Loci; Genetic Predisposition to Disease; Haplotypes; Humans; Linkage Disequilibrium; Mice; Monomeric Clathrin Assembly Proteins--genetics; Palate, Hard--embryology; Polymorphism, Single Nucleotide; Serine Endopeptidases--genetics; Serine Proteases--genetics
Other ID: NLM NIHMS189306, NLM PMC2924960
PubMed Central ID: PMC2924960
PubMed ID: 20511563
Date Deposited: 20 Sep 2012 19:41
Last Modified: 02 Feb 2019 14:55
URI: http://d-scholarship.pitt.edu/id/eprint/14335

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