Congenital Cartilaginous Rests of the Neck (Wattles)

Coras, Brigitte; Hafner, Christian; Roesch, Alexander; Vogt, Thomas; Landthaler, Míchael; Hohenleutner, Ulrích

doi:10.1097/00042728-200510000-00018

Cited by 11 publications

(6 citation statements)

References 3 publications

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“…A small number of goats have wattles under the ears. The wattle phenotype is observed in many animals, such as pigs and humans (Coras et al, 2010; Sabbioni et al, 2011). In 1926, wattles were preliminarily confirmed as an autosomal single‐gene dominant inheritance in goats (Lush, 1926).…”

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confidence: 99%

Genetic basis investigation of wattle phenotype in goat using genome‐wide sequence data

et al. 2022

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In domestic goats, wattles often appear in even numbers, mostly on the neck and a few under the ear. Goat wattle is composed of ectopic cartilage tissue covered by skin and was reported as a dominant inheritance. Thirty‐eight goats from two Southwest Chinese breeds were studied to elucidate the genetic basis of wattle phenotype in goat. Their genomes were sequenced for wide‐genome selective sweep analysis (WGSA) and a genome‐wide association study (GWAS). The WGSA results revealed 500 candidate genes identified by fixation index and π ratio and 261 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways enriched with 195 genes and 38 significantly enriched KEGG items. In particular, three chondrogenesis‐related pathways (Wnt, Hippo and MAPK signaling pathways) were found. Among the 500 genes, 474 were enriched to 2855 Gene Ontology items, and four (BMP2, BMP4, RARA and MSX1) were annotated in the regulation and development of chondrogenesis. Four chondrogenesis‐related genes (GREM1, NEDD4, ATG7 and ITGA1) were identified from 519 single‐nucleotide polymorphisms (SNPs) with a GWAS above the threshold. Six and 11 SNPs on chromosome 10 are located on GREM1 and NEDD4 respectively, and the highest numbers of SNPs on chromosomes 20 and 22 are located on ITGA1 and ATG7 respectively. All of these genes are related to cartilage development. This study identified a series of genes related to chondroplasia by GWAS and WGSA and presented the possibility that wattle inheritance may be influenced by multiple genes. This work provides a new theoretical understanding of the hereditary basis of wattle phenotype.

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Section: Figurementioning

confidence: 99%

Genetic basis investigation of wattle phenotype in goat using genome‐wide sequence data

et al. 2022

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“…One male had cartilaginous neck rests, a rare finding caused by aberrant development of the branchial arches (Fig. 1B) (12). Cardiac findings comprised Ebstein anomaly, Tetralogy of Fallot and patent ductus arteriosus that required surgery in two patients.…”

Section: Clinical Features Of the Eight Patients With De Novo Pbx1 Sequence Variantsmentioning

confidence: 99%

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Slavotinek

Risolino

Losa

et al. 2017

Human Molecular Genetics

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We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. PBX1 encodes a three amino acid loop extension (TALE) homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate target gene transcription during development. As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple organs, including the craniofacial skeleton, ear, branchial arches, heart, lungs, diaphragm, gut, kidneys, and gonads. Clinical findings similar to those in Pbx mutant mice were observed in all patients with varying expressivity and severity, including external ear anomalies, abnormal branchial arch derivatives, heart malformations, diaphragmatic hernia, renal hypoplasia and ambiguous genitalia. All patients but one had developmental delays. Previously reported patients with congenital anomalies affecting the kidney and urinary tract exhibited deletions and loss of function variants in PBX1. The sequence variants in our cases included missense substitutions adjacent to the PBX1 homeodomain (p.Arg184Pro, p.Met224Lys, and p.Arg227Pro) or within the homeodomain (p.Arg234Pro, and p.Arg235Gln), whereas p.Ser262Glnfs*2, and p.Arg288* yielded truncated PBX1 proteins. Functional studies on five PBX1 sequence variants revealed perturbation of intrinsic, PBX-dependent transactivation ability and altered nuclear translocation, suggesting abnormal interactions between mutant PBX1 proteins and wild-type TALE or HOX cofactors. It is likely that the mutations directly affect the transcription of PBX1 target genes to impact embryonic development. We conclude that deleterious sequence variants in PBX1 cause intellectual disability and pleiotropic malformations resembling those in Pbx1 mutant mice, arguing for strong conservation of gene function between these two species.

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“…Similar structures were also occasionally reported in other species such as sheep, pigs and humans (Darwin ; Mouquet ; Fröhner ; Lush ; Schumann ; Weissengruber ; Coras et al . ; Nasser et al . ).…”

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confidence: 99%

“…Wattles were alternatively designated as appendices colli, cervical chondrocutaneous remnants or congenital cartilaginous rest of neck (Weissengruber ; Coras et al . ; Nasser et al . ).…”

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confidence: 99%

Wattles in goats are associated with theFMN1/GREM1region on chromosome 10

et al. 2015

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SummaryThe presence of congenital appendages (wattles) on the throat of goats is supposed to be under genetic control with a dominant mode of inheritance. Wattles contain a cartilaginous core covered with normal skin resembling early stages of extremities. To map the dominant caprine wattles (W) locus, we collected samples of 174 goats with wattles and 167 goats without wattles from nine different Swiss goat breeds. The samples were genotyped with the 53k goat SNP chip for a subsequent genome‐wide association study. We obtained a single strong association signal on chromosome 10 in a region containing functional candidate genes for limb development and outgrowth. We sequenced the whole genomes of an informative family trio containing an offspring without wattles and its heterozygous parents with wattles. In the associated goat chromosome 10 region, a total of 1055 SNPs and short indels perfectly co‐segregate with the W allele. None of the variants were perfectly associated with the phenotype after analyzing the genome sequences of eight additional goats. We speculate that the causative mutation is located in one of the numerous gaps in the current version of the goat reference sequence and/or represents a larger structural variant which influences the expression of the FMN1 and/or GREM1 genes. Also, we cannot rule out possible genetic or allelic heterogeneity. Our genetic findings support earlier assumptions that wattles are rudimentary developed extremities.

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Congenital Cartilaginous Rests of the Neck (Wattles)

Cited by 11 publications

References 3 publications

Genetic basis investigation of wattle phenotype in goat using genome‐wide sequence data

Genetic basis investigation of wattle phenotype in goat using genome‐wide sequence data

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Wattles in goats are associated with theFMN1/GREM1region on chromosome 10

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