Analysis of XX SRY-Negative Sex Reversal Dogs
Abstract
:Simple Summary
Abstract
1. Introduction
2. Material and Methods
2.1. Ethical Statement
2.2. Cases
2.3. Morphological Analyses
2.4. Cytogenetic Analyses
2.5. Molecular Analyses
2.6. qPCR Analyses
2.7. Array-CGH Analyses
3. Results
3.1. Clinical Findings
3.2. Morphological Analyses
3.2.1. Case 1
3.2.2. Case 2
3.2.3. Case 3
3.2.4. Case 4
3.3. Cytogenetic Analyses
3.4. Molecular Analyses
3.5. Array-CGH Analyses
3.6. qPCR
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Gene | Primers | Sequence (5′-3′) | Amp Size (bp) | Genome Pos 1 |
---|---|---|---|---|
Sry | Sry-F | GCTGGGCGGAGAAATGAGTA | 783 | Not available |
Sry-R | CCAAGGTTTCCGGACTGTCA | |||
Amelx/y | DSI-F | ATAATGACAAAGAAAACATGAC | 215/247 | Chrx: 7,828,350–7,828,136 2 |
DSI-R | CTGCTGAGCTGGCACCAT | |||
Rspo1 | Rspo1-Ex1-f | GCAGGCGTTAGCAAGAGC | 297 | Chr15: 4,862,841–4,863,138 |
Rspo1-Ex1-r | ATCTGCAACGGTCATCACG | |||
Rspo1-Ex2-f | AAGCACGTTCACGTTAGTCTTG | 398 | Chr15: 4,871,649–4,872,047 | |
Rspo1-Ex2-r | ACCAATGGGTCAAAGCACTC | |||
Rspo1-Ex3-f | GTCACTCGGGCCTCCTCTA | 478 | Chr15: 4,873,791–4,874,269 | |
Rspo1-Ex3-r | GCAGAAAAGCTCGGAGACAA | |||
Rspo1-Ex4-f | ACTGACACTGCCTCCAGCAT | 480 | Chr15: 4,874,276–4,874,754 | |
Rspo1-Ex4-r | CTGTTGTCTGCCAGCGTCT | |||
Rspo1-Ex5-f | GGGGACCCTGAGACTGTGTA | 399 | Chr15: 4,875,173-4,875,572 | |
Rspo1-Ex5-r | TCCAGTTCCGTAAAGCTTCC | |||
Enh13 | Enh13-f | GCAATGTGCACAGTTTCAGAG | 118 | Chr9: 17,686,202–17,686,320 |
Enh13-r | TGAGGAATTAGAAGGCCATGA | |||
RevSex | RevSex-Dog-F | GACACTGTCCTGGGGAGAAA | 100 | Chr9:17,605,471- 17,605,570 |
RevSex-Dog-R | TGAAGGCCAAGAGGCTAAGA | |||
Bglr2 | BGLR2-F | GTGGAAGCCTGCAATTGTCT | 203 | Chr6: 734,406–734,609 |
BGLR2-R | CCGTGAACAGGTGTAATGCT |
Case Number | Breed | Age at First Clinical Evaluation | Phenotype | Surgical Findings |
---|---|---|---|---|
1 | Staffordshire terrier | 1Y | Female. | Ultrasound showed two ovotestis like structures in the abdomen caudally to the kidneys. |
2 | French bulldog | 9M | Female. Presence of a little palpable mass in inguinal region | A gonad with a uterine horn was removed from the abdomen and another gonad was removed from the inguinal region |
3 | French bulldog | 6M | Female. Presence of a little palpable mass in inguinal region | One gonad was in inguinal position and connected with a tubular structure. The other gonad was in the abdomen caudally to the kidney and was connected with a tubular structure that showed a fork linked to the vas deferens. Both structures ended in a uterine horn-like structure that lead directly into the vagina. The prostate was absent. Enlarged clitoris with penis bone protruded from an abnormal vulvae opening. |
4 | Mongrel | 1Y | Female. 4.8 kg. | Two ovotestis like structures were found in the abdomen connected with uterine horns that merge in a uterine like structure ending in the vagina. |
CNV | CHR | CanFam3 | END (bp) | Analyzed Subjects | ||||
---|---|---|---|---|---|---|---|---|
START (bp) | SIZE (kb) | 1 | 2 | 3 | 4 | |||
1 | Chr 4 | 106,352 | 469,199 | 363 | DEL | DEL | DEL | DEL |
2 | Chr 5 | 78,189,869 | 78,389,978 | 200 | DEL | DUP | DEL | |
3 | Chr 6 | 45,163,433 | 47,125,036 | 1962 | GAIN | GAIN | GAIN | GAIN |
4 | Chr 9 | 16,906,864 | 17,317,551 | 411 | DEL | DEL | DEL | |
5 | Chr 9 | 17,503,928 | 17,962,221 | 458 | DUP | DUP | DUP | |
6 | Chr 9 | 38,978,944 | 38,995,409 | 16 | DEL | DEL | DEL | |
7 | Chr 12 | 2,191,427 | 2,270,973 | 80 | DEL | DEL | DEL | |
8 | Chr 23 | 20,508,926 | 20,725,281 | 216 | GAIN | GAIN | ||
9 | Chr 26 | 27,171,599 | 27,220,687 | 49 | DELHO | DELHO | DELHO | DELHO |
10 | Chr 27 | 3,532,831 | 3,573,782 | 41 | GAIN | GAIN | ||
11 | Chr X | 71,752,458 | 72,234,092 | 482 | DELHO | DEL | DEL |
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Albarella, S.; Lorenzi, L.D.; Rossi, E.; Prisco, F.; Riccardi, M.G.; Restucci, B.; Ciotola, F.; Parma, P. Analysis of XX SRY-Negative Sex Reversal Dogs. Animals 2020, 10, 1667. https://doi.org/10.3390/ani10091667
Albarella S, Lorenzi LD, Rossi E, Prisco F, Riccardi MG, Restucci B, Ciotola F, Parma P. Analysis of XX SRY-Negative Sex Reversal Dogs. Animals. 2020; 10(9):1667. https://doi.org/10.3390/ani10091667
Chicago/Turabian StyleAlbarella, Sara, Lisa De Lorenzi, Elena Rossi, Francesco Prisco, Marita Georgia Riccardi, Brunella Restucci, Francesca Ciotola, and Pietro Parma. 2020. "Analysis of XX SRY-Negative Sex Reversal Dogs" Animals 10, no. 9: 1667. https://doi.org/10.3390/ani10091667