A new Robertsonian translocation in Blonde d'Aquitaine cattle, rob(4;10)

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A new Robertsonian translocation in Blonde

d’Aquitaine cattle, rob(4;10)

I Bahri-Darwich, Ep Cribiu, Hm Berland, R Darré

To cite this version:

Original

article

A

new

Robertsonian

translocation

in

Blonde

_{d’Aquitaine cattle,}

_rob(4;10)

I

Bahri-Darwich

EP Cribiu

1

HM

Berland

R

Darré

1

INRA,

Laboratoire de

G6n6tique Biochi9rcique

et de

_{Cytog6n6tique,}

Centre de Recherehes de

_{Jouy-en-Josas,}

78350

_{Jouy-en-Josas Cedex;}

2

É

cole

Nationale Veterinaire de

Toulouse,

URA-INRA de

_{Cytogénétique}

des

_Populations,

23, Chernin des

_Capelles,

31076 Toulouse

Cedex,

France

(Received

22

_February

1993;

accepted

1

_July

₁₉₉₃₎

Summary - The

_cytogenetic

study

of a

_population

of Blonde

_{d’Aquitaine}

cattle revealed

the _presence of a Robertsonian translocation. The chromosomes involved in this

abnor-mality

were determined

_using

G

(GTG),

R

(RBG)

and C

(CBG)

_{banding techniques.}

The chromosomes in

_question

were identified as chromosomes 4 and 10. The existence of

2

_paternal

half-sisters carrying the

abnormality

suggests that it

_originates

from the sire. cattle

_/

chromosome

_/

Robertsonian translocation

R.ésumé - Une nouvelle translocation chez les bovins Blonde _{d’Aquitaine,}

_rob(4;10).

L’étude

_{cytogénétique}

d’une

_population

de bovins Blonde

d’Aquitaine

a _permis de trouver

une nouvelle translocation robertsonienne. Les chromosomes

impliqués

dans cette anomalie

ont été déterminés à l’aide des

_techniques

de marquage G

(GTG),

R

(RBG)

et C

_(CBG).

Les chromosomes concernés sont

_le

_et le 10. L’existence de deux vaches porteuses

demi-soeurs de

_{père indique}

une _origine vraisemblablement

_paternelle

de l’anomalie.

bovin / chromosome

_/

translocation robertsonienne

INTRODUCTION

Robertsonian translocations are the most

_{commonly reported}

chromosome anoma-lies in

_cattle;

the most

_widespread

is the

1;29

translocation detected for the first

time

_by

Gustavsson and Rockborn

_(1964),

and

_reported

later

with

_{high frequency}

in numerous breeds worldwide

(Popescu,

_1977;

Popescu

and

_Pech,

1991).

The

_1;29

translocation is

_widespread

in the Blonde

_{d’Aquitaine}

breed since the

_frequency

of the

_heterozygous

and

_homozygous

_{carriers ranges} from 14 to

24%

(Queinnec

et

*

at, 1974; Cribiu, 1985;

Frebling

et

_at,

_1987).

In contrast, as in other

breeds,

other Robertsonian translocations have been

_{reported only}

as

sporadic

cases

(Berland

et

at,

1988;

Cribiu et

at,

1989).

The

present report

describes a new Robertsonian

translocation observed in Blonde

_{d’Aquitaine}

cattle.

MATERIALS AND METHODS

Animals

Karyotypes

were

_prepared

from one

_{phenotypically}

normal Blonde

_{d’Aquitaine}

cow

_carrying

the new translocation

(the proband),

its mother and 3 half-sisters

(1

maternal half-sister and 2

_paternal

_{half sisters),}

_belonging

to

private

farms near

Toulouse,

southwest France. The

_pedigree

is shown in

_figure

1.

Methods

The

_karyotype

of each cow was determined

_using

whole blood cultures

(Grouchy

et

_al,

₁₉₆₄₎

and

_primary

skin cell cultures

_(Chaffaux

et

_al,

_1986).

The

_peripheral

blood was cultured at 37°C for 72 h in Ham’s F12 medium

_supplemented

with

20%

fetal bovine _{serum, 2} mM

_glutamine,

100

_pg/ml

_streptomycin

and concanavalin A

_(final

concentration: 0.1

_yg/1).

Colcemid

_(final

concentration: 0.03

_mg/1)

was

added to the culture 60 min before

_harvesting.

Tissue

_biopsies

were

performed

under local anesthesia on the _rump.

_Primary

fibroblast cultures were initiated from

in a

_CO

₂

incubator as

monolayer

cultures in Falcon dishes

(75

cm

2

)

_containing

a

medium similar to that

_previously

described for

_lymphocyte

cultures.

G-banding

was achieved

_using

a modification of the

_technique

of

Seabright

(1971).

The C-bands were obtained

_by

the barium

_{hydroxide/saline/Giemsa}

(BSG)

technique

(Summer, 1972).

To induce

_{R-banding, 5-bromo-2-deoxyuridine}

was added to the medium at a final concentration of 10 or 20

_pg/ml.

The cultures were incubated at 37°C until the number of mitotic round cells reached a

_maximum,

about 8 to 9 h after BrdU addition

_(Hayes

et

_al,

_1991).

In order to obtain

RBG-bands,

the cells were treated

according

to the

_procedure

described

_{by Hayes}

et

al

₍₁₉₉₁₎

and

_{fluorochrome-photolysis-Giemsa}

_(FPG)

_staining

was

_performed

as

described

_{by Viegas-P6quignot}

et al

_(1989).

The chromosomes were

identified,

paired

and

arranged according

to the recom-mendations of the

_Reading

Conference

₍₁₉₇₆₎

and the ISCNDA

_(1989).

RESULTS

In

_classically

stained

_metaphases,

the

_karyotypes

of the cow and 1

_paternal

technique

revealed the presence of 2 constitutive heterochromatin blocks in the

pericentromeric region

of the

_4;10

translocated chromosome

_{(fig 4).}

Among

the other 3 animals

examined,

the

_mother,

1

_paternal

half-sister and 1

maternal half-sister were normal with a

_diploid

chromosome number

(2n)

of 60.

DISCUSSION AND CONCLUSION

This chromosome

_abnormality

is the fourth Robertsonian translocation

_reported

in

the Blonde

_{d’Aquitaine}

breed. The first translocation was the

_{1 ;29}

translocation

which is known to have a wide distribution _among AI bulls

(Queinnec

et

al,

1974)

and heifers

_(Frebling

et

_al,

_1987).

Chromosomes

_implicated

in the second and third translocations were identified as the 21 and

_27,

and the 9 and

23,

respectively

(Berland

et

_al,

1988,

Cribiu et

_al,

_1989).

These 2

_rob(21;27)

and

_rob(9;23)

have been observed

_only

in one Blonde

_{d’Aquitaine)}

bull and its

_progeny

_{respectively.}

Robertsonian translocations are the result of the fusion of 2 acrocentric chromo-somes. Two

_types

of Robertsonian translocations have been described in the Blond

d’Aquitaine

breed,

depending

on the _presence of one block

(1;29 translocation)

and

2 blocks

_{(21 ;27}

and

_{9 ;23}

_{translocation)}

of

_{juxtacentromeric}

constitutive heterochro-matin revealed

_by

the

_{CBG-banding technique}

_(Berland

et

_al,

_1988;

Cribiu et

_al,

1989).

The _presence of these 2 blocks would

_suggest

the mechanism

_by

which this translocation arose. The

_breakpoints

involved the short arms, which are

extremely

limited in

_size,

of both chromosomes 4 and 10 in the centromeric

region;

the fusion

gave rise to a submetacentric chromosome and 2 minute

fragments

(short arms)

which were lost

_during

the

_subsequent

cell divisions

(Eldridge, 1974).

The

_origin

of the translocation is

_uncertain,

since the

_karyotype

of the sire is

unknown. It is

_probable

that the

4;10

translocation

_originated

from the sire since it was found in 1

paternal

half-sister and not in the mother and the maternal half-sister.

As with a

_majority

of Robertsonian translocations found in animal

_populations,

the

_4;10

translocation does not seem to be associated with

_phenotypic

charac-teristics. In the absence of

_fertility

_records,

a reduced

fecundity

in

heterozygotes

resulting

from

_anaphase

I

_{nondisjunction}

_and/or

_changes

in the

_pattern

of recombi-nation in such

individuals,

cannot be excluded. For

_example,

the

_{1 ;29}

translocation

produces

in certain breeds a reduced

fertility

in the

daughters

of carrier bulls

(Gus-tavsson

_1969;

Refsdal

_1976).

ACKNOWLEDGMENTS

The assistance of G Fabre and his technical staff in the

housing

and

_handling

of the animals at the Domaine

_Experimental

de Carmaux

_(INRA)

is

_{gratefully acknowledged.}

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