Genotypic and Allelic Frequencies of Hereditary Cataract in the Italian Population of Australian Shepherd and Miniature American Shepherd Dogs
Hereditary cataract is a progressive ocular disorder that is present also in Australian Shepherd and Miniature American Shepherd dogs, primarily caused by a mutation in the <i>HSF4</i> gene. This study analyzed 233 Australian Shepherd dogs tested in Italy between 2020 and 2024 to evaluat...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-06-01
|
| Series: | Animals |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2076-2615/15/12/1778 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849467368610201600 |
|---|---|
| author | Maria Grazia De Iorio Giulietta Minozzi Sara Ghilardi Stefano Frattini Mara Bagardi Paola Giuseppina Brambilla Alessandra Paganelli Maria Cristina Cozzi Francesca Vecchi Michele Polli |
| author_facet | Maria Grazia De Iorio Giulietta Minozzi Sara Ghilardi Stefano Frattini Mara Bagardi Paola Giuseppina Brambilla Alessandra Paganelli Maria Cristina Cozzi Francesca Vecchi Michele Polli |
| author_sort | Maria Grazia De Iorio |
| collection | DOAJ |
| description | Hereditary cataract is a progressive ocular disorder that is present also in Australian Shepherd and Miniature American Shepherd dogs, primarily caused by a mutation in the <i>HSF4</i> gene. This study analyzed 233 Australian Shepherd dogs tested in Italy between 2020 and 2024 to evaluate genotypic and allelic frequencies of the main causative mutation. DNA samples were collected and tested, classifying individuals as homozygous wild-type, heterozygous, or homozygous mutant. The overall mutant allele frequency was 6.01%. Furthermore, a small subset of 13 Miniature American Shepherds was analyzed and genetic tests revealed that they were all homozygous wild type, suggesting no presence of the causative allele in this small sample. These findings confirm the importance of genetic testing in dog populations emphasizing the need for responsible selection practices to further minimize the disease’s impact. |
| format | Article |
| id | doaj-art-c88ed68e12924997b4e6b0b8c18d0dfd |
| institution | Kabale University |
| issn | 2076-2615 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Animals |
| spelling | doaj-art-c88ed68e12924997b4e6b0b8c18d0dfd2025-08-20T03:26:15ZengMDPI AGAnimals2076-26152025-06-011512177810.3390/ani15121778Genotypic and Allelic Frequencies of Hereditary Cataract in the Italian Population of Australian Shepherd and Miniature American Shepherd DogsMaria Grazia De Iorio0Giulietta Minozzi1Sara Ghilardi2Stefano Frattini3Mara Bagardi4Paola Giuseppina Brambilla5Alessandra Paganelli6Maria Cristina Cozzi7Francesca Vecchi8Michele Polli9Department of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, ItalyDepartment of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, ItalyDepartment of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, ItalyVetogene Laboratory—ENCI Servizi SRL, 20139 Milan, ItalyDepartment of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, ItalyDepartment of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, ItalyVetogene Laboratory—ENCI Servizi SRL, 20139 Milan, ItalyDepartment of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, ItalyDepartment of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, ItalyDepartment of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, ItalyHereditary cataract is a progressive ocular disorder that is present also in Australian Shepherd and Miniature American Shepherd dogs, primarily caused by a mutation in the <i>HSF4</i> gene. This study analyzed 233 Australian Shepherd dogs tested in Italy between 2020 and 2024 to evaluate genotypic and allelic frequencies of the main causative mutation. DNA samples were collected and tested, classifying individuals as homozygous wild-type, heterozygous, or homozygous mutant. The overall mutant allele frequency was 6.01%. Furthermore, a small subset of 13 Miniature American Shepherds was analyzed and genetic tests revealed that they were all homozygous wild type, suggesting no presence of the causative allele in this small sample. These findings confirm the importance of genetic testing in dog populations emphasizing the need for responsible selection practices to further minimize the disease’s impact.https://www.mdpi.com/2076-2615/15/12/1778hereditary cataractAustralian ShepherdMiniature American Shepherdgeneticsallelic frequency |
| spellingShingle | Maria Grazia De Iorio Giulietta Minozzi Sara Ghilardi Stefano Frattini Mara Bagardi Paola Giuseppina Brambilla Alessandra Paganelli Maria Cristina Cozzi Francesca Vecchi Michele Polli Genotypic and Allelic Frequencies of Hereditary Cataract in the Italian Population of Australian Shepherd and Miniature American Shepherd Dogs Animals hereditary cataract Australian Shepherd Miniature American Shepherd genetics allelic frequency |
| title | Genotypic and Allelic Frequencies of Hereditary Cataract in the Italian Population of Australian Shepherd and Miniature American Shepherd Dogs |
| title_full | Genotypic and Allelic Frequencies of Hereditary Cataract in the Italian Population of Australian Shepherd and Miniature American Shepherd Dogs |
| title_fullStr | Genotypic and Allelic Frequencies of Hereditary Cataract in the Italian Population of Australian Shepherd and Miniature American Shepherd Dogs |
| title_full_unstemmed | Genotypic and Allelic Frequencies of Hereditary Cataract in the Italian Population of Australian Shepherd and Miniature American Shepherd Dogs |
| title_short | Genotypic and Allelic Frequencies of Hereditary Cataract in the Italian Population of Australian Shepherd and Miniature American Shepherd Dogs |
| title_sort | genotypic and allelic frequencies of hereditary cataract in the italian population of australian shepherd and miniature american shepherd dogs |
| topic | hereditary cataract Australian Shepherd Miniature American Shepherd genetics allelic frequency |
| url | https://www.mdpi.com/2076-2615/15/12/1778 |
| work_keys_str_mv | AT mariagraziadeiorio genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs AT giuliettaminozzi genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs AT saraghilardi genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs AT stefanofrattini genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs AT marabagardi genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs AT paolagiuseppinabrambilla genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs AT alessandrapaganelli genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs AT mariacristinacozzi genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs AT francescavecchi genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs AT michelepolli genotypicandallelicfrequenciesofhereditarycataractintheitalianpopulationofaustralianshepherdandminiatureamericanshepherddogs |