A new Robertsonian translocation, 8/23, in cattle

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A new Robertsonian translocation, 8/23, in cattle

L Biltueva, S Sharshova, A Sharshov, T Ladygina, P Borodin, A

Graphodatsky

To cite this version:

Note

A

new

Robertsonian

translocation,

8/23,

in

cattle

L

_Biltueva,

S

_Sharshova,

A

_Sharshov,

T

_Ladygina

P

Borodin A

_Graphodatsky

Institute

_{of Cytology}

and

Genetics,

Siberian Branch

_of

the

_{Academy of Sciences,}

Novosibirsk,

630090, Russia

(Received

26

January 1993; accepted

29 October

₁₉₉₃₎

Summary - A new Robertsonian translocation was found in 7 animals of the

_Grey

Ukrainian breed. The translocated

_{chromosome, analyzed by}

GTG- and

RBG-banding,

resulted from the fusion of chromosomes 8 and 23.

_{C-banding suggested}

that the

trans-located chromosome has a double heterochromatic block.

Synaptonemal complex analysis

was

_{performed using}

electron

microscopy.

cattle

_/

chromosome

_/

Robertsonian translocation

Résumé - Une nouvelle translocation robertsonienne bovine,

8/23.

On a découvert une

nouvelle translocation robertsonienne chez 7

_{représentants}

de la race Ukrainienne

_grise.

Le

chromosome

_{fusionné, analysé}

par une

_technique

de bandes GTG et

_RBG,

est le résultat de la

_fusion

des chromosomes 8 et 2.i. La

technique

de bande C

_suggère

que le chromosome

fusionné possède

2 blocs

_{hétérochromatiques. L’analyse}

des

_{complexes synaptonémiques}

a

été

_effectuée

au _microscope

électronique.

bovin

_/

chromosome

_/

translocation robertsonienne

INTRODUCTION

Twenty-eight

different centric fusion translocations are known in cattle of which 12

have

been

described with the method of

_banding

_(Berland

et

_al,

_1988).

The most

common is the

_1/29

translocation,

found with different

frequencies

in more than 40

breeds of cattle. Fusions of other

_pairs

are rare

(Gustavsson,

_1979;

_Long,

1985).

The

_present

communication describes a new Robertsonian

translocation,

re-vealed in

_Grey

Ukrainian cattle.

*

MATERIALS AND METHODS

Seven animals

_(3Q

and

_{4d )}

of

_Grey

Ukrainian

_cattle,

_heterozygous

for a

Robert-sonian

_{translocation,}

were studied. The information on

relationships

between the

affected animals is absent.

Chromosomal

_preparations

were made from blood

_cells,

stimulated with PHAM

(Difco).

Delayed

condensation was induced

_by

ethidium bromide

_{(Ikeuchi, 1984).}

CTG-banding

(Sumner, 1972)

and

_GTG-banding

_(Seabright,

₁₉₇₁₎

were conducted.

RBG-banding

was

_{performed according}

to the modified FPG method

_(Perry

and

Wolf, 1974;

Camargo

and

Cervenka, 1980; Ronne,

1983).

The standard nomenclature of the cattle chromosomes was used

(ISCNDA, 1990).

Preparations

of

_{surface-spread synaptonemal}

complexes

(SCs)

were made

(Solari,

1980).

A

_suspension

of testis cells was

_spread

on 0.2 M sucrose solution.

Surface-spread

cells were

picked

_up on

plastic-coated

slides. The

_preparations

were fixed in

4%

_{paraformaldehyde}

solution. The

_spreads

were stained with

50%

silver nitrate

solution

_(Howell

and

_Black,

_1980).

_They

were then transferred and

_photographed

using

an electron

_microscope

JEM-100

_(Jeol).

In

_total,

100 nuclei with the

_complete

SC set at the

_pachytene

_stage

were

_analyzed.

Meiotic

_prophase

_stages

were identified

as described

by

Dollin et al

_(1989).

RESULTS

Routine

_staining

of

_preparations

revealed 59

chromosomes,

including

one biarmed

autosome in all cells. This chromosome is similar to the X-chromosome in size and

arm ratio

(fig 1).

C-banding

shows 2 clear

_{blocks, proximally}

distributed on the

2 arms of the aberrant chromosome

(fig 2).

_Analysis

of GTG- and

_RBG-banding

Fig

5 and 6

present

SC

_{microphotographs}

of the

_8/23

trivalent. In contrast

to the

_1/29

_{translocation,}

which is

_easily

identified

_by

_size,

the

_8/23

trivalent

could be identified

_{only by}

the presence of

unpaired

subcentromeric

regions

of its acrocentic elements at

_early

_pachytene.

The

_delay

in

_pairing

can be noted in the

subcentromeric

_region

of one or both acro-centric chromosomes.

In the

_majority

of mid- and

_{late-pachytene}

_{cells, complete synapsis}

was observed

throughout

the total

_length

of the trivalent and

_only

in rare cases could we

distinguish

the Robertsonian trivalent from normal bivalents due to the dark

staining

of the attachment

plaques

at the subcentromeric

_regions

of the acrocentric

elements

_(fig

_6).

No case of association between the trivalent and XY bivalent was observed. In fact the X and Y axes were associated end-to-end in

_{approximately}

1/3

of the

pachytene

cells.

_They

never demonstrated a clear

_SC,

even in these _cases, and were

dissociated in the rest of the

_pachytene

cells. Axial

splits

of their terminal

_segments

DISCUSSION

The

comparative

analysis

of GTG- and

_RBG-banding

patterns

of the translocation chromosome and its

_homologues

has shown that the centric fusion occurred without obvious loss of chromosomal material. The presence of heterochromatic blocks in

the

_{proximal regions}

of the short and the

_long

arms of the aberrant chromosome

is also indicative of the lack of a

_large

deletion in the subcentromeric

_regions

of chromosomes 8 and 23. The

_possibility

of

_{suggested breakages}

near to the

centromeres with minimal loss of chromosomal material is

_{supported by}

the SC

study.

The

_8/23

fusion in meiotic

_prophase

is

_fairly

similar behaviour to that of the

_heterozygous

_1/29

translocation

_(Switonski

et

_al,

_1987).

_Compared

with the

subcentromeric

_region,

which is more rare and therefore observed

_during

a shorter

time in

_prophase.

In

_addition,

we found no trivalent with extensive

nonhomologous

synapsis

of the subcentromeric

_segments

of the acrocentric

_{chromosomes, though}

configurations

with

_unpaired

subcentromeric

_segments

were

_quite

common

(25%

of

centromeres in the latter. It was shown earlier

(Forejt

et

al,

1981)

that translocation multivalents tended to associate with the sex bivalent. This can result in decreased

fertility

of the carriers. Trivalent

_8/23

does not show such associations.

In all known cases of centric fusions in

cattle,

_except

for the

1/29

translocation,

the

_newly

formed biarmed chromosomes have 2 heterochromatic blocks. The

_1/29

translocation differs

_{by having only}

1 heterochromatic block on the _q-arm. The lack

of a C-block on the short arm

_suggests

a deletion of the subcentromeric

_region

of

chromosome

29,

which has been

_{supported by analysis}

of

_{high-resolution banding}

patterns

and SC

_analysis

in

_{heterozygotes. According}

to some authors

(Evans

et

_al,

, 1973 ; Popescu,

1977)

translocations of the

_1/29

type

arise from an earlier formation.

This idea is based on the fact that centric fusions that are not

_{preceded by}

deletion in an arm are dicentric and can

_disintegrate

with the

passing

of

_generations.

The

_8/23

translocation described occurred without obvious loss of heterochro-matin. This

_type

of centric fusion is the most common, formed de novo, in cattle.

ACKNOWLEDGMENTS

This work was

supported by

a research _grant from the Russian State

_Project

’Frontiers in

Genetics’ and the International Science Foundation. We would like to thank the referees for comments and

_{friendly help}

in

_preparing

the

_manuscript.

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