mapping of the porcine agouti-related protein (agrp) gene to chromosome 6

2
Acknowledgements: We gratefully acknowledge provision of the radiation hybrid panel by Drs Martine Yerle and Denis Milan (INRA, Castanet-Tolosan, France). We would like to thank Marie Datlova ´ and Ing. Gabriela Purs ˇova ´ for excellent technical assistance. This work was supported by Grant Agency of the Czech Republic (Grant no. 523/00/0669) and Grant Agency of the Ministry of Agriculture of the Czech Republic (MZE-M03- 99-1). References 1 Ga ¨rtner J. et al. (1998) Genomics 48, 203–8. 2 Ga ¨rtner J. et al. (1993) Genomics 15, 412–4. 3 Geldermann H. et al. (1996) J Anim Breed Genet 113, 381–7. 4 Green P. et al. (1990) Documentation for CRI-MAP, Version 2.4. Washington University, School of Medicine, St Louis, MO. 5 Blaz ˇkova ´ P. et al. (2000) Anim Genet 31, 416–8. 6 Yerle M. et al. (1998) Cytogenet Cell Genet 82, 182–8. 7 Hawken R.J. et al. (1999) Mamm Genome 10, 824–30. 8 Stratil A. et al. (2001) Anim Genet 32, 110–2. 9 Trask B.J. (1991) Method Cell Biol 35, 3–35. 10 Yeldandi A.V. et al. (1992) Cytogenet Cell Genet 61, 121–2. 11 Rettenberger G. et al. (1996) Chromosome Res 4, 147–50. Correspondence: A. Stratil (e-mail: [email protected]) Mapping of the porcine agouti-related protein (AGRP ) gene to chromosome 6 K. S. Kim and M. F. Rothschild Department of Animal Science, Iowa State University, 2255 Kildee Hall, Ames, IA 50011, USA Accepted 13 May 2001 Source/description: Agouti-related protein (AGRP) is a neuro- peptide that mediates the orexigenic and metabolic effects of leptin signalling via binding to and inhibiting of central mela- nocortin receptors 1 . Primers were designed in the regions of sequence conserved among the human, mouse and bovine AGRP genes (GenBank accession nos. U89485, U89486 and AJ002025, respectively). The sequence of the porcine poly- merase chain reaction (PCR) products was identified as the porcine AGRP gene spanning exons 1 and 3 and showed 91 and 87% exonic identity to the corresponding human and bovine AGRP sequences, respectively. Using this sequence (GenBank accession no. AF220543), pig specific primers were designed. Sequence analysis of the PCR products from several individual pigs of different breeds detected an intronic nucleotide substi- tution situated in a DrdI restriction enzyme recognition site. Primer sequences: Primers derived from other species sequences (800 bp) Forward primer: 5¢-GAA GGG CAT C(A/G)G AAG GCC TG-3¢. Reverse primer: 5¢-TAC CCA GCT TGC GGC AGT AG-3¢. The porcine-specific primers (600 bp) Forward primer: 5¢-GTG GTT CTG CCC TCA CAT CAT C-3¢. Reverse primer: 5¢-CAT GGT ACC TGG TGT CCC AGA C-3¢. PCR conditions: Both PCR reaction were performed using 12.5 ng of porcine genomic DNA, 1x PCR buffer, 1.5 mM MgCl 2 , 0.125 mM dNTP, 0.3 lM of each primer, and 0.35 U Taq DNA polymerase (Promega, Madison, WI, USA) in a 10-ll final volume. The PCR profile included 2 min at 94 °C; 35 cycles of 30 s at 94 °C, 1 min at 56 °C, 1 min 30 s at 72 °C; and a final 15 min extension at 72 °C in a Robocycler (Stratagene, La Jolla, CA, USA). Polymorphisms: The DrdI digestion of the 600 bp PCR product produced allelic fragments of 600 bp (allele 1), or 420 and 180 bp (allele 2) and this restriction fragment length poly- morphism (RFLP) analysis was used to genotype animals from PiGMaP reference families and the Iowa State University herd. Mendelian inheritance/allele frequencies: Mendelian segregation of DrdI PCR-RFLP was observed in 4 three-generation PiGMaP families 2 . Genotyping of 54 unrelated animals from several breeds in the Iowa State University herd determined allele frequencies of the polymorphism. Allele 1 was observed with a frequency of 1 in Hampshire (n 9), Duroc (n 9) and Chester White (n 9), 0.83 and 0.88 in Large White (n 9) and Landrace (n 8), respectively, but was not observed in Meishan (n 10) (Fig. 1). Chromosomal location/linkage: The AGRP was assigned to chromosome 6 (P 1.00) and the (1/2)p12-(1/2)p14 region (P 0.81) by PCR analysis of a pig-rodent somatic cell hybrid panel 3 . Two-point and multipoint linkage analyses were per- formed using CRIMAP 2.4 against other genotypes in the PiGMaP Linkage database (http://www.resSpecies.org). Most significant linkages between AGRP and PiGMaP markers were obtained from microsatellite S0087 (recombination frac- tion 0.00 and LOD 3.01) and S0297 (recombination fraction 0.00 and LOD 3.31) on chromosome 6. Figure 1 DrdI PCR-restriction fragment length polymorphism (RFLP) of the porcine AGRP gene. Lane 1 is molecular marker, lane 2, the heterozygote; lane 3 and 5, allele 1 homozygotes; lane 4 and 6, allele 2 homozygotes. The arrows indicate each allele. 325 Brief notes Ó 2001 International Society for Animal Genetics, Animal Genetics, 32, 316–331

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Acknowledgements: We gratefully acknowledge provision of the

radiation hybrid panel by Drs Martine Yerle and Denis Milan

(INRA, Castanet-Tolosan, France). We would like to thank

Marie Datlova and Ing. Gabriela PursÏova for excellent technical

assistance. This work was supported by Grant Agency of the

Czech Republic (Grant no. 523/00/0669) and Grant Agency of

the Ministry of Agriculture of the Czech Republic (MZE-M03-

99-1).

References1 GaÈrtner J. et al. (1998) Genomics 48, 203±8.

2 GaÈrtner J. et al. (1993) Genomics 15, 412±4.

3 Geldermann H. et al. (1996) J Anim Breed Genet 113,

381±7.

4 Green P. et al. (1990) Documentation for CRI-MAP, Version

2.4. Washington University, School of Medicine, St Louis,

MO.

5 BlazÏkova P. et al. (2000) Anim Genet 31, 416±8.

6 Yerle M. et al. (1998) Cytogenet Cell Genet 82, 182±8.

7 Hawken R.J. et al. (1999) Mamm Genome 10, 824±30.

8 Stratil A. et al. (2001) Anim Genet 32, 110±2.

9 Trask B.J. (1991) Method Cell Biol 35, 3±35.

10 Yeldandi A.V. et al. (1992) Cytogenet Cell Genet 61, 121±2.

11 Rettenberger G. et al. (1996) Chromosome Res 4, 147±50.

Correspondence: A. Stratil (e-mail: [email protected])

Mapping of the porcine agouti-relatedprotein (AGRP ) gene to chromosome 6

K. S. Kim and M. F. Rothschild

Department of Animal Science, Iowa State University, 2255 Kildee

Hall, Ames, IA 50011, USA

Accepted 13 May 2001

Source/description: Agouti-related protein (AGRP) is a neuro-

peptide that mediates the orexigenic and metabolic effects of

leptin signalling via binding to and inhibiting of central mela-

nocortin receptors1. Primers were designed in the regions of

sequence conserved among the human, mouse and bovine

AGRP genes (GenBank accession nos. U89485, U89486 and

AJ002025, respectively). The sequence of the porcine poly-

merase chain reaction (PCR) products was identi®ed as the

porcine AGRP gene spanning exons 1 and 3 and showed 91 and

87% exonic identity to the corresponding human and bovine

AGRP sequences, respectively. Using this sequence (GenBank

accession no. AF220543), pig speci®c primers were designed.

Sequence analysis of the PCR products from several individual

pigs of different breeds detected an intronic nucleotide substi-

tution situated in a DrdI restriction enzyme recognition site.

Primer sequences: Primers derived from other species sequences

(800 bp)

Forward primer: 5¢-GAA GGG CAT C(A/G)G AAG GCC TG-3¢.

Reverse primer: 5¢-TAC CCA GCT TGC GGC AGT AG-3¢.The porcine-speci®c primers (600 bp)

Forward primer: 5¢-GTG GTT CTG CCC TCA CAT CAT C-3¢.Reverse primer: 5¢-CAT GGT ACC TGG TGT CCC AGA C-3¢.

PCR conditions: Both PCR reaction were performed using

12.5 ng of porcine genomic DNA, 1x PCR buffer, 1.5 mM MgCl2,

0.125 mM dNTP, 0.3 lM of each primer, and 0.35 U Taq DNA

polymerase (Promega, Madison, WI, USA) in a 10-ll ®nal

volume. The PCR pro®le included 2 min at 94 °C; 35 cycles of

30 s at 94 °C, 1 min at 56 °C, 1 min 30 s at 72 °C; and a ®nal

15 min extension at 72 °C in a Robocycler (Stratagene, La Jolla,

CA, USA).

Polymorphisms: The DrdI digestion of the 600 bp PCR product

produced allelic fragments of 600 bp (allele 1), or 420 and

180 bp (allele 2) and this restriction fragment length poly-

morphism (RFLP) analysis was used to genotype animals from

PiGMaP reference families and the Iowa State University herd.

Mendelian inheritance/allele frequencies: Mendelian segregation

of DrdI PCR-RFLP was observed in 4 three-generation PiGMaP

families2. Genotyping of 54 unrelated animals from several

breeds in the Iowa State University herd determined allele

frequencies of the polymorphism. Allele 1 was observed with

a frequency of 1 in Hampshire (n � 9), Duroc (n � 9) and

Chester White (n � 9), 0.83 and 0.88 in Large White (n � 9)

and Landrace (n � 8), respectively, but was not observed in

Meishan (n � 10) (Fig. 1).

Chromosomal location/linkage: The AGRP was assigned to

chromosome 6 (P � 1.00) and the (1/2)p12-(1/2)p14 region

(P � 0.81) by PCR analysis of a pig-rodent somatic cell hybrid

panel3. Two-point and multipoint linkage analyses were per-

formed using CRIMAP 2.4 against other genotypes in the

PiGMaP Linkage database (http://www.resSpecies.org). Most

signi®cant linkages between AGRP and PiGMaP markers were

obtained from microsatellite S0087 (recombination frac-

tion � 0.00 and LOD � 3.01) and S0297 (recombination

fraction � 0.00 and LOD � 3.31) on chromosome 6.

Figure 1 DrdI PCR-restriction fragment length polymorphism (RFLP) of

the porcine AGRP gene. Lane 1 is molecular marker, lane 2, the

heterozygote; lane 3 and 5, allele 1 homozygotes; lane 4 and 6, allele 2

homozygotes. The arrows indicate each allele.

325Brief notes

Ó 2001 International Society for Animal Genetics, Animal Genetics, 32, 316±331

Comments: As the human AGRP maps to HSA16, which is

known to share homology with pig chromosome 6p, the

assignment of the AGRP to porcine chromosome 6 is in

accordance with the previous results obtained by chromosome

painting between human and pig4.

Acknowledgements: This work is supported by PIC International

Group and the Iowa Agriculture and Home Economics Experi-

mental Station, Ames, paper no. J-19015, project no. 3600,

as well as by Hatch Act and State of Iowa funds. Support by the

EC for the PiGMaP DNA and bioinformatics support by

A. Archibald and associates of the Roslin Institute is greatly

appreciated.

References1 Shutter J.R. et al. (1997) Genes Develop 11, 593±602.

2 Archibald A. et al. (1995) Mamm Genome 6, 157±75.

3 Yerle M. et al. (1996) Cytogenet Cell Genet 73, 194±202.

4 Goureau A. et al. (1996) Genomics 36, 252±62.

Correspondence: M.F. Rothschild (e-mail: [email protected])

FISH assignment of two equine BAC clonescontaining SRY and ZFY

K. Hirota*, F. Piumi², F. Sato³, N. Ishida³,G. Gue rin§, N. Miura* and T. Hasegawa³

*Department of Molecular Genetics, Laboratory of Racing

Chemistry, 1731-2 Tsuruta-Cho, Utsunomiya 320-0851, Japan.²INRA, Centre de Recherche de Jouy, Laboratoire mixte INRA-CEA

de Radiobiologie et d'Etude du GeÂnome, 78352 Jouy-en-Josas

Cedex, France. ³Equine Research Institute, Japan Racing Associ-

ation, 321-4 Tokami-Cho, Utsunomiya 320-0856, Japan. §INRA,

Centre de Recherche de Jouy, Laboratoire de GeÂne tique biochi-

mique et de Cytoge ne tique, 78352 Jouy-en-Josas Cedex, France

Accepted 19 May 2001

Source/description: The INRA equine BAC library1 (G. GueÂrin

et al., unpublished data) was screened with two pairs of primers

derived from previously reported Y-chromosome linked genes

for sex-determining protein (SRY; GenBank AB004572)2 and

zinc ®nger protein (ZFY; GenBank AF133198)3. These two

clones, 616B11(SRY) and 397C2(ZFY) were mapped by

f luorescence in situ hybridization (FISH).

PCR conditions for BAC screening at INRA: Thirty seconds at

94 °C, 30 s at 60 °C and 30 s at 72 °C, 35 cycles.

PCR Mix ®nal concentrations: MgCl2: 1.5 mM, dNTPs: 200 lM

each, primers: 1 lM, Taq: 0.035 U.

Primer sequence: SRY forward primer, ESRYF002: 5¢-CTTAA-

GCTTCTGCTATGTCCAGAGTATCC-3¢.

SRY reverse primer, ESRYR480:

5¢-GCGGTTTGTCACTTTTCTGTGGCATCTT-3¢.Ampli®ed fragment size: 429 bp2.

ZFY forward primer, P1-5EZ:

5¢-ATAATCACATGGAGAGCCACAAGCT-3¢.ZFY reverse primer, P2-3EZ: 5¢-GCACTTCTTTGGTATCTGA-

GAAAGT-3¢.Ampli®ed fragment size: 450 bp3.

FISH assignment: Each BAC clone was labelled with biotin by

nick-translation. The BrdU incorporated metaphases were

prepared by a whole blood culture as previously reported4,

and were R-banded by UV-irradiation followed by Hoechst

33258 staining as described by Takahashi et al.5 The FISH

procedure was performed by a common method for suppres-

sion in situ hybridization and the detection using FITC-avidin.

The images of the observation were photographed using the

positive ®lms. The equine SRY gene was assigned to the distal

region of Yq13, adjacent to Yq14 and the equine ZFY gene

was assigned to the terminal band, Yq15. No obvious signals

could be observed on X and other chromosomes in both FISH

(Fig. 1).

Comments: This is the ®rst report indicating a physical assign-

ment to the equine Y-chromosome. Lack of SRY is thought to

be a primary genetic basis of mares with XY-gonadal dysgen-

esis, called XY-mares2. In the diagnostic procedure, failure in

PCR ampli®cation of SRY is a strong evidence of certain alter-

ation of this gene with the successful ampli®cation of other sex-

linked genes, such as ZFX/ZFY. Although, Shiue et al. reported

the gene order among SRY, ZFY and STS-Y by analysis using

somatic cell hybrids6, the distances between any two genes

were still unknown. In cattle, ZFY was assigned to the short

arm (Yp13) of Y-chromosome7 in contrast to SRY on the long

arm (Yq11)8. It is interesting that the equine SRY and ZFY

localize to the different bands on the same arm of Y-chromo-

some. This observation is consistent with humans, where both

genes map to the same band (Yp11.3), but certain differences

with the ruminants existed. These two assigned loci should be

important landmarks for linkage and other analysis on the

equine Y-chromosome.

References1 Godard S. et al. (1998) Mamm Genome 9, 633±7.

2 Hasegawa T. et al. (2000) J Vet Med Sci 62, 1109±10.

3 Senese C. et al. (1999) Anim Genet 30, 390±1.

4 Hirota K. et al. (2001) Anim Genet, in press.

5 Takahashi E. et al. (1991) Human Genet 88, 119±21.

6 Shiue Y.L. et al. (1999) Chromosome Res 8, 45±55.

7 Xiao C. et al. (1998) Mamm Genome 9, 125±30.

8 Cui X. et al. (1995) Anim Sci Technol 66, 441±4.

Correspondence: K. Hirota (e-mail: [email protected])

326 Brief notes

Ó 2001 International Society for Animal Genetics, Animal Genetics, 32, 316±331