Unterschiede

Hier werden die Unterschiede zwischen zwei Versionen angezeigt.

--- genetik:zwergwuchs_hmga2 [2026/03/08 07:05] – [Rassekaninchenzucht und Tierschutz] kathrin
+++ genetik:zwergwuchs_hmga2 [2026/03/08 17:29] (aktuell) – [Verbreitung der del-Variante] kathrin
@@ Zeile 17: / Zeile 17: @@
 ^deutsch (englisch) ^DNA^Protein^::: ^::: ^::: ^
 |Dw (//Dw//)*<sup>1</sup> (alternativ: +) |Wildtyp | | Wichtiger direkter oder indirekter Transkriptions-Regulator; Wachstumsregulation während der Embryonalentwicklung (Skelettmuskulatur)((Hu, D. 2014. Identification and analysis of the dwarf mutation in domestic rabbits. Swedish University of Agricultural Sciences, Faculty of Veterinary Medicine and Animal Science. Master’s Thesis.))((Carneiro, M., Hu, D., Archer, J., Feng, C., Afonso, S., Chen, C., ... & Andersson, L. 2017. Dwarfism and altered craniofacial development in rabbits is caused by a 12.1 kb deletion at the HMGA2 locus. Genetics, 205(2), 955-965.)) |Normale Körpergröße und Größenverhältnisse  | |
-| dw (//dw//)*<sup>1</sup> (alternativ: del) |~12,1 kb-Deletion, welche die Promotorregion und die ersten drei Exons des HMGA2-Gens überlappt (Orycun2.0)((Hu, D. 2014. Identification and analysis of the dwarf mutation in domestic rabbits. Swedish University of Agricultural Sciences, Faculty of Veterinary Medicine and Animal Science. Master’s Thesis.))((Carneiro, M., Hu, D., Archer, J., Feng, C., Afonso, S., Chen, C., ... & Andersson, L. 2017. Dwarfism and altered craniofacial development in rabbits is caused by a 12.1 kb deletion at the HMGA2 locus. Genetics, 205(2), 955-965.)) | | Vermutlich vollständiger Funktionsverlust des HMGA2;\\ +/del: v.a. verminderte Expression von HMGA2; del/del: fehlendes funktionelles HMGA2 und in Folge Unterdrückung der IGF2BP2-Genexpression, sowie veränderte Expression weiterer Gene und Fehlregulierung von mtDNA((Carneiro, M., Hu, D., Archer, J., Feng, C., Afonso, S., Chen, C., ... & Andersson, L. 2017. Dwarfism and altered craniofacial development in rabbits is caused by a 12.1 kb deletion at the HMGA2 locus. Genetics, 205(2), 955-965.))*<sup>2</sup> |Zwergwuchs, veränderte Schädelanatomie; **Typzwerge: Dw/dw**;\\ **homozygot (dw/dw) lethal** - "Peanuts" versterben innerhalb weniger Tage nach der Geburt |//Netherland dwarf// (Farbenzwerge)((Hu, D. 2014. Identification and analysis of the dwarf mutation in domestic rabbits. Swedish University of Agricultural Sciences, Faculty of Veterinary Medicine and Animal Science. Master’s Thesis.)); del/del: //Netherland dwarf// (//n//=14), //Holland lop// (//n//=4), //long-haired dwarf// (//n//=1);\\ +/del: //Netherland dwarf// (16/20 - 4x fehl-phänotypisierte +/+)((Carneiro, M., Hu, D., Archer, J., Feng, C., Afonso, S., Chen, C., ... & Andersson, L. 2017. Dwarfism and altered craniofacial development in rabbits is caused by a 12.1 kb deletion at the HMGA2 locus. Genetics, 205(2), 955-965.)); Farbenzwerge (50/100; Vietnam)((Nguyen, T. D., Van Dang, L., Tran, P. N. N., Van Nguyen, D., & Bui, A. P. N. 2024. Molecular detection and association of 12.1 kb deletion within the high mobility AT‐hook 2 gene in the Netherlands dwarf rabbit (Oryctolagus Cuniculus). Analytical Science Advances, 5(7-8), e2300050.)); Zwergwidder (2/14; ANCI, Italien)((Bovo, S., Carneiro, M., Ribani, A., Bolner, M., Taurisano, V., Schiavo, G., … & Fontanesi, L. 2025. Signatures of selection detected from whole‐genome sequencing indicate that the small body size in dwarf rabbit breeds is caused by polygenic effects with a few major loci. Animal Genetics, 56(4), e70025.)) |
+| dw (//dw//)*<sup>1</sup> (alternativ: del) |~12,1 kb-Deletion, welche die Promotorregion und die ersten drei Exons des HMGA2-Gens überlappt (Orycun2.0)((Hu, D. 2014. Identification and analysis of the dwarf mutation in domestic rabbits. Swedish University of Agricultural Sciences, Faculty of Veterinary Medicine and Animal Science. Master’s Thesis.))((Carneiro, M., Hu, D., Archer, J., Feng, C., Afonso, S., Chen, C., ... & Andersson, L. 2017. Dwarfism and altered craniofacial development in rabbits is caused by a 12.1 kb deletion at the HMGA2 locus. Genetics, 205(2), 955-965.)) | | Vermutlich vollständiger Funktionsverlust des HMGA2;\\ +/del: v.a. verminderte Expression von HMGA2; del/del: fehlendes funktionelles HMGA2 und in Folge Unterdrückung der IGF2BP2-Genexpression, sowie veränderte Expression weiterer Gene und Fehlregulierung von mtDNA((Carneiro, M., Hu, D., Archer, J., Feng, C., Afonso, S., Chen, C., ... & Andersson, L. 2017. Dwarfism and altered craniofacial development in rabbits is caused by a 12.1 kb deletion at the HMGA2 locus. Genetics, 205(2), 955-965.))*<sup>2</sup> |Zwergwuchs, veränderte Schädelanatomie; **Typzwerge: Dw/dw** -- relativ große Köpfe, kleine Ohren und verkürzte Schnauzen;\\ **homozygot (dw/dw) lethal** -- "Peanuts" versterben innerhalb weniger Tage nach der Geburt |//Netherland dwarf// (Farbenzwerge)((Hu, D. 2014. Identification and analysis of the dwarf mutation in domestic rabbits. Swedish University of Agricultural Sciences, Faculty of Veterinary Medicine and Animal Science. Master’s Thesis.)); del/del: //Netherland dwarf// (//n//=14), //Holland lop// (//n//=4), //long-haired dwarf// (//n//=1);\\ +/del: //Netherland dwarf// (16/20 - 4x fehl-phänotypisierte +/+)((Carneiro, M., Hu, D., Archer, J., Feng, C., Afonso, S., Chen, C., ... & Andersson, L. 2017. Dwarfism and altered craniofacial development in rabbits is caused by a 12.1 kb deletion at the HMGA2 locus. Genetics, 205(2), 955-965.)); Farbenzwerge (50/100; Vietnam)((Nguyen, T. D., Van Dang, L., Tran, P. N. N., Van Nguyen, D., & Bui, A. P. N. 2024. Molecular detection and association of 12.1 kb deletion within the high mobility AT‐hook 2 gene in the Netherlands dwarf rabbit (Oryctolagus Cuniculus). Analytical Science Advances, 5(7-8), e2300050.)); Zwergwidder (2/14; ANCI, Italien)((Bovo, S., Carneiro, M., Ribani, A., Bolner, M., Taurisano, V., Schiavo, G., … & Fontanesi, L. 2025. Signatures of selection detected from whole‐genome sequencing indicate that the small body size in dwarf rabbit breeds is caused by polygenic effects with a few major loci. Animal Genetics, 56(4), e70025.));\\ siehe auch [[zwergwuchs_hmga2#Verbreitung der del-Variante|Verbreitung der del-Variante]]|
 *<sup>1</sup>: Symbolik nach Fox, 1994((Fox, R. R. 1994. Taxonomy and Genetics. In: Manning, P. J.; Ringler, D. H. & Newcomer, C. E. (Eds): The Biology of the Laboratory Rabbit. 2nd. Ed. San Diego : Academic Press. ISBN: 0124692354. S. 1-26.))(S. 12): Dw - Lethalfaktor, dw - Wildtyp\\
@@ Zeile 36: / Zeile 36: @@
 ===== Verbreitung der del-Variante =====
+==== Nguyen et al., 2024 ====
+Nguyen //et al//., 2024((Nguyen, T. D., Van Dang, L., Tran, P. N. N., Van Nguyen, D., & Bui, A. P. N. 2024. Molecular detection and association of 12.1 kb deletion within the high mobility AT‐hook 2 gene in the Netherlands dwarf rabbit (Oryctolagus Cuniculus). Analytical Science Advances, 5(7-8), e2300050.)) entwickelten eine Multiplex-PCR-Methode zur schnellen Identifizierung von HMGA2 del-Trägern anhand von Speichelproben. Dabei wurden 100 Farbenzwerge (//Netherlands dwarf rabbits//) aus Süd-Vietnam überprüft und folgende Genotypen ermittelt: 34x +/+, 50x +/del (Probenmaterial stammte von gesunden Tieren im fortpflanzungsfähigen Alter) und 16x del/del (Probenmaterial stammte von Neugeborenen).
+==== Taurisano et al., 2026 ====