Duplication in ECR near HMX1 and a SNP in GATA6 Genes Regulate Microtia in Awassi Sheep

Jawasreh, Khaleel; Al-Omari, Haitham Daif-Allah

doi:10.3390/genes11060597

Cited by 7 publications

(14 citation statements)

References 17 publications

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“…Interestingly, HMX1 biallelic variants are associated with oculoauricular syndrome [MIM:612 109]51 whereas the specific duplication of HMX1 -ECR is linked to Concha-type microtia, an autosomal-dominant mild form of microtia 46. Several spontaneous animal models of microtia/ear dysplasia (cattle or sheep) are described as carrying duplications of the HMX1 -ECR88–90 (table 4). Deletion of this ECR results in loss of Hmx1 expression in a tissue-specific manner in the dmbo rat whose phenotype includes a ventral displacement of the ear91 (table 4).…”

Section: Oavs Animal Modelsmentioning

confidence: 99%

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

et al. 2022

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Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical management, in order to help and improve clinical care and genetic counselling of these patients and their families.

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Section: Oavs Animal Modelsmentioning

confidence: 99%

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

et al. 2022

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“…HMX1 was described by He et al. (2020) and a significant interaction with GATA6 was found in Jawasreh and Al‐Omari (2020). In general, for the candidate SNP in GATA6 Exon 7, we performed genotyping by PCR‐RFLP and electrophoresis on a 1% agarose gel on all 340 sampled animals.…”

Section: Methodsmentioning

confidence: 81%

“…Finally, we separated the DNA fragments by size and visualised them by agarose gel electrophoresis (1% agarose gel in 1× TBE buffer) with GelRed as a dye. For the candidate variant close to HMX1 , we also used the primers described in Jawasreh and Al‐Omari (2020) and applied a similar PCR protocol as above, with the only difference being an annealing temperature of 63°C. Since the HMX1 alleles differ in size (duplication of 76 bp), an agarose gel electrophoresis of the PCR products and genotyping by fragment size were performed directly.…”

Section: Methodsmentioning

confidence: 99%

Genetic basis of ear length in sheep breeds sampled across the region from the Middle East to the Alps

Klawatsch,

Papachristou,

Koutsouli

et al. 2023

Animal Genetics

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Ear length in sheep (Ovis aries) shows a wide range of natural variation, from the absence of an outer ear structure (anotia), to small outer ears (microtia), to regular ear length. Up until now, the underlying genetics of this phenotype has been studied in four sheep breeds from China, Jordan and Italy. These studies revealed a broad range of genes significantly associated with ear length, potentially indicating genetic heterogeneity across breeds or geographic regions. In the current study, we performed genome‐wide SNP genotyping and haplotype‐based mapping, in a population of 340 individuals, to identify loci influencing ear length variation in additional sheep breeds from Slovenia, Croatia, Cyprus and Greece. Additionally, two previously described candidate variants were also genotyped in our mapping population. The mapping model without candidate variant genotypes revealed only one genome‐wide significant signal, which was located next to HMX1 on OAR6. This region was previously described as being associated with ear length variation in the Altay and Awassi sheep breeds. The mapping model including the candidate duplication genotype near HMX1 as a fixed effect explained the phenotypic variance on OAR6 and revealed an additional genome‐wide significant locus on OAR13 associated with ear length. Our results, combined with published evidence, suggest that a duplication in the evolutionarily conserved region near HMX1 is the major regulator of ear length in sheep breeds descended from a larger region from Central Asia, to the Middle East, Cyprus, Greece and to the Alps. This distribution suggests an ancient origin of the derived allele.

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“…The GATA gene family has six members (GATA1-GATA6) in vertebrates and plays a critical role in controlling the growth, differentiation and survival of diverse cells, as well as maintaining the body's functions [58]. Currently, mutations in GATA6 were reported to be associated with microtia in Awassi sheep in ruminants [59].…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide Association Studies for Milk Somatic Cell Score in Romanian Dairy Cattle

Ilie

Mizeranschi

Míhali

et al. 2021

Genes

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Mastitis is one of the most frequently encountered diseases in dairy cattle, negatively affecting animal welfare and milk production. For this reason, contributions to understanding its genomic architecture are of great interest. Genome-wide association studies (GWAS) have identified multiple loci associated with somatic cell score (SCS) and mastitis in cattle. However, most of the studies have been conducted in different parts of the world on various breeds, and none of the investigations have studied the genetic architecture of mastitis in Romanian dairy cattle breeds up to this point in time. In this study, we report the first GWAS for SCS in dairy cattle breeds from Romania. For GWAS, we used an Axiom Bovine v3 SNP-chip (>63,000 Single Nucleotide Polymorphism -SNPs) and 33,330 records from 690 cows belonging to Romanian Spotted (RS) and Romanian Brown (RB) cattle. The results found one SNP significantly associated with SCS in the RS breed and 40 suggestive SNPs with −log10 (p) from 4 to 4.9 for RS and from 4 to 5.4 in RB. From these, 14 markers were located near 12 known genes (AKAP8, CLHC1, MEGF10, SATB2, GATA6, SPATA6, COL12A1, EPS8, LUZP2, RAMAC, IL12A and ANKRD55) in RB cattle, 3 markers were close to ZDHHC19, DAPK1 and MMP7 genes, while one SNP overlapped the HERC3 gene in RS cattle. Four genes (HERC3, LUZP2, AKAP8 and MEGF10) associated with SCS in this study were previously reported in different studies. The most significant SNP (rs110749552) associated with SCS was located within the HERC3 gene. In both breeds, the SNPs and position of association signals were distinct among the three parities, denoting that mastitis is controlled by different genes that are dependent according to parity. The current results contribute to an expansion in the body of knowledge regarding the proportion of genetic variability explained by SNPs for SCS in dairy cattle.

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Duplication in ECR near HMX1 and a SNP in GATA6 Genes Regulate Microtia in Awassi Sheep

Cited by 7 publications

References 17 publications

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

Genetic basis of ear length in sheep breeds sampled across the region from the Middle East to the Alps

Genome-Wide Association Studies for Milk Somatic Cell Score in Romanian Dairy Cattle

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