Duplication in <i>ECR</i> near <i>HMX1</i> and a SNP in <i>GATA6</i> Genes Regulate Microtia in Awassi Sheep
Microtia and anotia are hereditary traits characterized by an underdevelopment or complete absence of the outer ear. These congenital malformations observed in many species can exist as part of various syndromes or as an isolated trait as seen in the fat-tailed Awassi sheep breed. Our study aims to...
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MDPI AG
2020-05-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/11/6/597 |
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| author | Khaleel I. Z. Jawasreh Haitham Daif-Allah Al-Omari |
| author_facet | Khaleel I. Z. Jawasreh Haitham Daif-Allah Al-Omari |
| author_sort | Khaleel I. Z. Jawasreh |
| collection | DOAJ |
| description | Microtia and anotia are hereditary traits characterized by an underdevelopment or complete absence of the outer ear. These congenital malformations observed in many species can exist as part of various syndromes or as an isolated trait as seen in the fat-tailed Awassi sheep breed. Our study aims to identify the genetic mutations causing microtia in Awassi sheep by DNA sequencing. DNA was extracted from blood samples randomly collected from 84 Awassi sheep (16 earless, 41 short ear and 27 normal ear) across different farms. <i>GATA6</i> exons 1, 2, 4, 6 and 7, CLRN1 intron 3, DCC intron 2, ECR near <i>HMX1</i> and the intergenic region between <i>GATA6</i> and MIB1 genes were screened, amplified and sequenced. Allele and genotype frequencies were calculated by direct counting. Association was performed using chi-squared test for goodness-of-fit. Results showed mutations in only two genes significantly associated with microtia in Awassi: duplication in part of ECR near <i>HMX1</i> (6:114293121-6:114293196) and a SNP at <i>GATA6</i> exon 7 (23:34498242). Association results revealed that the ECR locus accounts for the microtia phenotype, while <i>GATA6</i> exon 7 acts as a modifier gene. Genetic screening for these loci can be used to improve selection against microtia in Awassi sheep. |
| first_indexed | 2024-03-10T19:31:38Z |
| format | Article |
| id | doaj.art-8722b35f80a4404688511089bdbfbbf0 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T19:31:38Z |
| publishDate | 2020-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-8722b35f80a4404688511089bdbfbbf02023-11-20T02:05:07ZengMDPI AGGenes2073-44252020-05-0111659710.3390/genes11060597Duplication in <i>ECR</i> near <i>HMX1</i> and a SNP in <i>GATA6</i> Genes Regulate Microtia in Awassi SheepKhaleel I. Z. Jawasreh0Haitham Daif-Allah Al-Omari1Department of Animal Production, Faculty of Agriculture, Jordan University of Science and Technology (JUST), Irbid 22110, JordanDepartment of Animal Production, Faculty of Agriculture, Jordan University of Science and Technology (JUST), Irbid 22110, JordanMicrotia and anotia are hereditary traits characterized by an underdevelopment or complete absence of the outer ear. These congenital malformations observed in many species can exist as part of various syndromes or as an isolated trait as seen in the fat-tailed Awassi sheep breed. Our study aims to identify the genetic mutations causing microtia in Awassi sheep by DNA sequencing. DNA was extracted from blood samples randomly collected from 84 Awassi sheep (16 earless, 41 short ear and 27 normal ear) across different farms. <i>GATA6</i> exons 1, 2, 4, 6 and 7, CLRN1 intron 3, DCC intron 2, ECR near <i>HMX1</i> and the intergenic region between <i>GATA6</i> and MIB1 genes were screened, amplified and sequenced. Allele and genotype frequencies were calculated by direct counting. Association was performed using chi-squared test for goodness-of-fit. Results showed mutations in only two genes significantly associated with microtia in Awassi: duplication in part of ECR near <i>HMX1</i> (6:114293121-6:114293196) and a SNP at <i>GATA6</i> exon 7 (23:34498242). Association results revealed that the ECR locus accounts for the microtia phenotype, while <i>GATA6</i> exon 7 acts as a modifier gene. Genetic screening for these loci can be used to improve selection against microtia in Awassi sheep.https://www.mdpi.com/2073-4425/11/6/597anotiamodifier genepinnaearless |
| spellingShingle | Khaleel I. Z. Jawasreh Haitham Daif-Allah Al-Omari Duplication in <i>ECR</i> near <i>HMX1</i> and a SNP in <i>GATA6</i> Genes Regulate Microtia in Awassi Sheep Genes anotia modifier gene pinna earless |
| title | Duplication in <i>ECR</i> near <i>HMX1</i> and a SNP in <i>GATA6</i> Genes Regulate Microtia in Awassi Sheep |
| title_full | Duplication in <i>ECR</i> near <i>HMX1</i> and a SNP in <i>GATA6</i> Genes Regulate Microtia in Awassi Sheep |
| title_fullStr | Duplication in <i>ECR</i> near <i>HMX1</i> and a SNP in <i>GATA6</i> Genes Regulate Microtia in Awassi Sheep |
| title_full_unstemmed | Duplication in <i>ECR</i> near <i>HMX1</i> and a SNP in <i>GATA6</i> Genes Regulate Microtia in Awassi Sheep |
| title_short | Duplication in <i>ECR</i> near <i>HMX1</i> and a SNP in <i>GATA6</i> Genes Regulate Microtia in Awassi Sheep |
| title_sort | duplication in i ecr i near i hmx1 i and a snp in i gata6 i genes regulate microtia in awassi sheep |
| topic | anotia modifier gene pinna earless |
| url | https://www.mdpi.com/2073-4425/11/6/597 |
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