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Animal Cytogenetics and Comparative Mapping


                           Cytogenet Genome Res 108:355-358  (2005) 	                      Cytogenetic          and
                           DOI: 10.11 59/000081531	                                          Genome Research


                           Freemartinism in river buffalo: clinical and

                           cytogenetic observations


                                                                                b
                                                                                               a
                                                     a
                                                                    a
                                      a
                           L. lannuzzi,  G.P.  Di  Meo,  A. Perucatti,  F. Ciotola,  D. Incarnato,  R.  Di  Palo, b
                                     b
                                                     b
                          V. Peretti,  G. Campanile  and L. Zicarelli b
                          a
                           National Research Council (CNR), ISPAAM, Laboratory of Animal Cytogenetics and Gene Mapping, and
                          b Department of Animal Production and Food Inspection, University of Naples Federico II, Naples (Italy)
                          Manuscript received 25 March 2004; accepted in revised form for publication by T. Haaf 10 May 2004.





            Abstract. During the last five years forty phenotypic female  only a reduced size of one testicle in one animal. Clinical obser-
         river buffalos with reproductive problems and two phenotypic  vations performed in the internal reproductive organs of the
         male co-twins of females, raised in the provinces of Caserta and  female carriers by both rectal palpation (5 females) and direct
         Salerno (southern Italy) underwent cytogenetic investigation.  observation after mating (3 females) revealed serious damages
         Of the 42 animals studied, 10 freemartins (8 females and 2  varying from complete lack of internal sex adducts (closed vagi-
         males) were found with variable percentages of male and  na) to hypoplasia of Múllerian ducts and absence (or atrophy)
         female blood cells, the majority however showing similar per-  of ovaries. All freemartin females were sterile. To our knowl-
         centages of both. Of the eight females, six showed normal body  edge, this is the first detailed description of freemartinism in
         conformation, vagina and clitoris, while two showed some male  river buffalo by combining clinical and cytogenetic analyses.
         traits (tight pelvis). The two males were apparently normal with                 Copyright © 2005 S. Karger AG, Basel




           The river buffalo (Bubalus bubalis, 2n = 50) is a species of  my and sex reversal syndrome (Iannuzzi et al., 2000, 2001,
         great economical importance in many countries. In all, it num-  2004). However, the most frequent cases were freemartin
         bers about 170 million animals and is increasing, especially in  females, a well-known condition in cattle (reviewed by Ruvin-
         European countries due to cow milk production quotas, and in  sky and Spicer, 1999), where about 90 %1 of the females are
         Brazil. In Italy, there is a river buffalo population of about  thought to be sterile, but practically unknown in river buffalo.
         250,000, over 70% of which are concentrated in the southern  Freemartinism is a consequence of placental anastomosis
         region of Campania (Zicarelli, 2001). Reproductive problems  between co-twins of different sex, which generally occurs dur-
         are normally present in the river buffalo farms where this spe-  ing the second to third week of embryonic life, prior to sex dif-
         cies is raised for milk (mainly in Italy) and meat production.  ferentiation, which occurs in about 45-day-old female embryos
         Very often, females that have reached the reproductive age con-  (Ruvinsky and Spicer, 1999). Furthermore, gonad differentia-
         tinue to remain non-pregnant.                       tion seems to start earlier (one week) in males than in females
           Studying these females we noted that some were carriers of  (Ruvinsky and Spicer, 1999). Male fetus cells, through the
         sex chromosome abnormalities such as X monosomy, X triso-  action of both testosterone and anti-Múllerian hormone, are
                                                             responsible for the atrophy or complete lack of Múllerian ducts
                                                             in the female co-twin (Vigier et al., 1984). This aetiology is well
                                                             known in cattle and hence freemartin females are generally
                                                             eliminated after birth.
         Supported in part by SeSIRCA division of the Campania Regional Authority Agricul-
           tural Department.                                    In this study we report the cytogenetic and clinical observa-
         Request reprints from: L. Iannuzzi, CNR-ISPAAM      tions performed in eight phenotypic female and two phenotyp-
           Laboratory of Animal Cytogenetics and Gene Mapping  ic male river buffaloes found to be freemartin. To our knowl-
           Via Argine, 1085, 80147 Naples-Ponticelli (Italy)
           telephone: +39-081-5964977; fax: +39-081-5965291  edge, this is the first detailed description of this phenomenon in
           e-mail: L.Iannuzzi@iabbam.na.cnr.i t              this species by combining clinical and cytogenetic analyses.


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