Comparative analysis of <i>PRNP</i> 12-bp and 23-bp indels in healthy Aberdeen Angus, Aberdeen Angus x Hereford, Holstein Friesian and Uruguayan Creole cattle

Artigas, Rody; Vazquez, Noelia; Nicolini, Paula; Llambí, Silvia; Armstrong, Eileen

doi:10.1590/1678-5150-PVB-7209

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Livestock Diseases • Pesq. Vet. Bras. 43 • 2023 • https://doi.org/10.1590/1678-5150-PVB-7209 copy

Comparative analysis of PRNP 12-bp and 23-bp indels in healthy Aberdeen Angus, Aberdeen Angus x Hereford, Holstein Friesian and Uruguayan Creole cattle

Análise comparativa de PRNP 12bp e 23bp indels em bovinos Aberdeen Angus, Aberdeen Angus x Hereford, Holstein Friesian e Crioulo Uruguaio saudáveis

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT:

Bovine spongiform encephalopathy (BSE) is a transmissible progressive neurodegenerative disease characterized by the accumulation of a pathological isoform (PrpSC) of the cellular prion protein (PrpC) in the brain of cattle. Two insertion/deletion polymorphisms in the PRNP gene (23bp in the promoter and 12bp in intron 1) have been associated with resistance or susceptibility to the disease. The aim of this study was to analyze the distribution of these polymorphisms in 214 healthy bovines belonging to four different breed groups (Aberdeen Angus, Aberdeen Angus x Hereford, Holstein Friesian and Uruguayan Creole cattle). DNA samples were amplified by end-point PCR. A high frequency of the alleles and haplotype associated with susceptibility to BSE (del12 and del23, and del12-del23, respectively) were found in the Aberdeen Angus, Aberdeen Angus x Hereford and Holstein Friesian animals. At the same time, the Uruguayan Creole cattle presented a higher frequency of the alleles and haplotype associated with resistance to BSE (ins12 and ins23, and ins12-ins23, respectively). These data could indicate a greater genetic resistance of the Uruguayan Creole cattle to BSE compared to other analyzed breeds, reinforcing its value as a zoogenetic resource.

INDEX TERMS:
Prion; PRNP gene; Aberdeen Angus; Hereford; Holstein Friesian; Uruguayan Creole; cattle; indel polymorphism

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[1] *Corresponding author: rodyartigas@gmail.com

Breed/indel	% Genotypes			Alleles		P-value
Breed/indel	+/+	+/-	-/-	+	-	AA	AA x H	HF	UC
12bp (400-412)
AA (n=76)	0	39	61	0.20	0.80	--	0.295	<0.01*	<0.00001*
AA x H (n=22)	0	28	72	0.16	0.84	--	--	<0.01*	<0.00001*
HF(n=30)	17	50	33	0.42	0.58	--	--	--	0.17
UC (n=86)	29	52	19	0.55	0.45	--	--	--	--

23bp (100-123)
AA (n=76)	5	33	62	0.22	0.78	--	0.195	0.12	<0.00001*
AA x H (n=22)	9	45	45	0.32	0.68	--	--	0.84	<0.01*
H F (n=30)	7	53	40	0.33	0.67	--	--	--	<0.001*
UC (n=86)	27	57	16	0.55	0.45	--	--	--	--

Haplotype		No. of chromosomes			Freq.	P-value
Haplotype		n	n*	N	Freq.	AA	AA x H	HF	UC
AA (n=76)						--	0.37	<0.0001**	<0.0001**
	12ins-23ins	0	0	0	0
	12ins-23del	9	21	30	0.20
	12del-23ins	12	21	33	0.22
	12del-23del	89	0	89	0.58

AA x H (n=22)						--	--	<0.0001**	<0.0001**
	12ins-23ins	0	0	0	0
	12ins-23del	1	6	7	0.16
	12del-23ins	8	6	14	0.32
	12del-23del	23	0	23	0.52

HF (n=30)						--	--	--	0.04**
	12ins-23ins	6	12	18	0.3
	12ins-23del	6	1	7	0.12
	12del-23ins	1	1	2	0.03
	12del-23del	21	12	33	0.55

CU (n=86)						--	--	--	--
	12ins-23ins	47	43	90	0.52
	12ins-23del	4	1	5	0.03
	12del-23ins	4	1	5	0.03
	12del-23del	29	43	72	0.42

Breed	D	D`	r2	P-value
Aberdeen Angus	-0.044	-1	0.071	0.001*
Aberdeen Angus x Hereford	-0.051	-1	0.091	0.045*
Holstein Friesian	0.161	0.84	0.49	<0.00001*
Uruguayan Creole	0.217	0.88	0.774	<0.00001*

Genotype	Aberdeen Angus (n=76)	Aberdeen Angus x Hereford (n=22)	Uruguayan Creole (n=86)	Holstein Friesian (n=30)
12ins-23ins/12ins-23ins	0	0	0.27 (23)	0.06 (2)
12ins-23ins/12ins-23del	0	0	0.012 (1)	0.06 (2)
12ins-23ins/12del-23ins	0	0	0	0
12ins-23ins/12del-23del*	0*	0*	0.5 (43)*	0.4 (12)*
12del-23del/12del-23del	0.5 (38)	0.41 (9)	0.14 (12)	0.3 (9)
12del-23del/12del-23ins	0.05 (4)	0.1 (4)	0.05 (4)	0.03 (1)
12del-23del/12in-23del	0.12 (9)	0.04 (1)	0.012 (1)	0.06 (2)
12ins-23del/12ins-23del	0	0	0.012 (1)	0.03 (1)
12ins-23del/12del-23ins*	0.28 (21)*	0.27 (6)*	0.012 (1)*	0.03 (1)*
12del-23ins/12del-23ins	0.05 (4)	0.09 (2)	0	0

Breed	Country*	N	12-bp indel		23-bp indel		Reference
Breed	Country*	N	+	-	+	-	Reference
Aberdeen Angus	CN	30	0.37	0.63	0.22	0.78	Zhu et al. (2011)Zhu X.-Y., Feng F.-Y., Xue S.-Y., Hou T. & Liu H.-R. 2011. Bovine spongiform encephalopathy associated insertion/deletion polymorphisms of the prion protein gene in the four beef cattle breeds from North China. Genome 54(10):805-811. <https://dx.doi.org/10.1139/g11-043> <PMid:21923635> https://doi.org/https://dx.doi.org/10.11...
Aberdeen Angus	BR	99	0.44	0.56	0.27	0.73	Kerber et al. (2008)Kerber A.R., Hepp D., Passos D.T. & Weimer T.A. 2008. Polymorphisms of two indels at the PRNP gene in three beef cattle herds. Biochem. Genet. 46(1/2):1-7. <https://dx.doi.org/10.1007/s10528-007-9113-y> <PMid:18064562> https://doi.org/https://dx.doi.org/10.10...
Aberdeen Angus	BR	26	0.54	0.46	0.19	0.81	Sanches et al. (2016)Sanches C.C., Rosinha G.M.S., Galvão C.E., Feijó G.L.D., Araújo F.R. & Soares C.O. 2016. Polymorphisms in the Prion Protein Gene of cattle breeds from Brazil. Pesq. Vet. Bras. 36(11):1059-1066. <https://dx.doi.org/10.1590/s0100-736x2016001100001> https://doi.org/https://dx.doi.org/10.15...
Aberdeen Angus	UY	76	0.2	0.8	0.22	0.78	Present study
Aberdeen Angus x Hereford	UY	22	0.16	0.84	0.32	0.68	Present study
Caracú	BR	40	0.7	0.3	0.72	0.28	Galvâo et al. (2012)Galvão C.E., Rosinha G.M.S., Sanches C.C., Elisei C., Araújo F.R., Feijó G.L.D., Torres Jr. R.A.A. & Soares C.O. 2012. Polymorphisms of intron 1 and the promoter region at the PRNP gene in BSE-free Caracu cattle. Biochem. Genet. 50(9/10):657-669. <https://dx.doi.org/10.1007/s10528-012-9508-2> <PMid:22580793> https://doi.org/https://dx.doi.org/10.10...
Uruguayan Creole	UY	86	0.55	0.45	0.55	0.45	Present study
Franqueiro	BR	73	0.33	0.67	0.36	0.64	Kerber et al. (2008)Kerber A.R., Hepp D., Passos D.T. & Weimer T.A. 2008. Polymorphisms of two indels at the PRNP gene in three beef cattle herds. Biochem. Genet. 46(1/2):1-7. <https://dx.doi.org/10.1007/s10528-007-9113-y> <PMid:18064562> https://doi.org/https://dx.doi.org/10.10...
Hereford	CN	30	0.12	0.88	0.02	0.98	Zhu et al. (2011)Zhu X.-Y., Feng F.-Y., Xue S.-Y., Hou T. & Liu H.-R. 2011. Bovine spongiform encephalopathy associated insertion/deletion polymorphisms of the prion protein gene in the four beef cattle breeds from North China. Genome 54(10):805-811. <https://dx.doi.org/10.1139/g11-043> <PMid:21923635> https://doi.org/https://dx.doi.org/10.11...
Holstein Friesian	UK	276	0.37	0.63	0.29	0.71	Juling et al. (2006)Juling K., Schwarzenbacher H., Williams J.L. & Fries R. 2006. A major genetic component of BSE susceptibility. BMC Biol. 4:33. <https://dx.doi.org/10.1186/1741-7007-4-33> <PMid:17014722> https://doi.org/https://dx.doi.org/10.11...
Holstein Friesian	JP	863	0.26	0.74	0.21	0.79	Nakamitsu et al. (2006)Nakamitsu S., Miyazawa T., Horiuchi M., Onoe S., Ohoba Y., Kitagawa H. & Ishiguro N. 2006. Sequence variation of bovine prion protein gene in Japanese cattle (Holstein and Japanese Black). J. Vet. Med. Sci. 68(1):27-33. <https://dx.doi.org/10.1292/jvms.68.27> <PMid:16462113> https://doi.org/https://dx.doi.org/10.12...
Holstein Friesian	JP	65	0.58	0.42	0.45	0.55	Msalya et al. (2009)Msalya G., Shimogiri T., Okamoto S., Kawabe K., Minezawa M., Namikawa T. & Maeda Y. 2009. Gene and haplotype polymorphisms of the Prion gene (PRNP) in Japanese Brown, Japanese native and Holstein cattle. Anim. Sci. J. 80(5):520-527. <https://dx.doi.org/10.1111/j.1740-0929.2009.00669.x> https://doi.org/https://dx.doi.org/10.11...
Holstein Friesian	KR	52	0.38	0.62	0.3	0.7	Jeong et al. (2006)Jeong B.-H., Lee Y.-J., Kim N.-H., Carp R.I. & Kim Y.S. 2006. Genotype distribution of the prion protein gene (PRNP) promoter polymorphisms in Korean cattle. Genome 49(12):1539-1544. <https://dx.doi.org/10.1139/g06-110> <PMid:17426768> https://doi.org/https://dx.doi.org/10.11...
Holstein Friesian	DE	66	0.47	0.53	0.42	0.58	Kashkevich et al. (2007)Kashkevich K., Humeny A., Ziegler U., Groschup M.H., Nicken P., Leeb T., Fischer C., Becker C.-M. & Schiebel K. 2007. Functional relevance of DNA polymorphisms within the promoter region of the prion protein gene and their association to BSE infection. FASEB J. 21(7):1547-1555. <https://dx.doi.org/10.1096/fj.06-7522com> <PMid:17255470> https://doi.org/https://dx.doi.org/10.10...
Holstein Friesian	DE	313	0.47	0.53	0.38	0.62	Juling et al (2006)Juling K., Schwarzenbacher H., Williams J.L. & Fries R. 2006. A major genetic component of BSE susceptibility. BMC Biol. 4:33. <https://dx.doi.org/10.1186/1741-7007-4-33> <PMid:17014722> https://doi.org/https://dx.doi.org/10.11...
Holstein Friesian	DE	80	0.34	0.66	0.33	0.67	Haase et al. (2007)Haase B., Doherr M.G., Seuberlich T., Drögemüller C., Dolf G., Nicken P., Schiebel K., Ziegler U., Groschup M.H., Zurbriggen A. & Leeb T. 2007. PRNP promoter polymorphisms are associated with BSE susceptibility in Swiss and German cattle. BMC Genet. 8:15. <https://dx.doi.org/10.1186/1471-2156-8-15> <PMid:17437640> https://doi.org/https://dx.doi.org/10.11...
Holstein Friesian	US	690	0.47	0.53	0.43	0.57	Brunelle et al. (2008)Brunelle B.W., Greenlee J.J., Seabury C.M., Brown C.E. & Nicholson E.M. 2008. Frequencies of polymorphisms associated with BSE resistance differ significantly between Bos taurus, Bos indicus, and composite cattle. BMC Vet. Res. 4:36. <https://dx.doi.org/10.1186/1746-6148-4-36> <PMid:18808703> https://doi.org/https://dx.doi.org/10.11...
Holstein Friesian	PL	510	0.45	0.55	0.36	0.64	Strychalski et al. (2012)Strychalski J., Czarnik U. & Zabolewicz T. 2012. Abnormal segregation of alleles and haplotypes at the polymorphic site of the PRNP gene within promoter and intron 1 regions in Polish Holstein-Friesian cattle. Biochem. Gen. 50(7/8):520-528. <https://dx.doi.org/10.1007/s10528-012-9496-2> <PMid:22258312> https://doi.org/https://dx.doi.org/10.10...
Holstein Friesian	PL	651	0.48	0.52	0.38	0.62	Gurgul et al. (2012)Gurgul A., Polak M.P., Larska M. & Słota E. 2012. PRNP and SPRN genes polymorphism in atypical bovine spongiform encephalopathy cases diagnosed in Polish cattle. J. Appl. Genet. 53(3):337-342. <https://dx.doi.org/10.1007/s13353-012-0102-4> <PMid:22723200> https://doi.org/https://dx.doi.org/10.10...
Holstein Friesian	UY	30	0.42	0.58	0.33	0.67	Present study