1996
DOI: 10.1007/s003359900033
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Genetic mapping of the autosomal region involved in XX sex-reversal and horn development in goats

Abstract: Contrary to other genetic disorders, the genetic study of sex determination anomalies in humans stumbles over the difficulty in observing large pedigrees. In goats, abnormalities in sex determination are intimately linked to a dominant Mendelian gene coding for the "polled" (hornless) character, which could render this species an interesting animal model for the rare human cases of SRY-negative XX males. In this report, we describe genetic linkage between the polled/intersex synchome (PIS) and four microsatell… Show more

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Cited by 72 publications
(44 citation statements)
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“…The chromosome 10 QTL overlapped with the horns locus, a locus controlling discrete horn phenotypes in domestic sheep (that is, presence versus absence of horns, Montgomery et al, 1996). On the other hand, no putative QTL overlapped with loci known to influence discrete horn polymorphisms in other bovid genera (Georges et al, 1993;Vaiman et al, 1996;Asai et al, 2004). This suggests that different genes may be responsible for quantitative and discrete variation in horn morphology among bovids.…”
Section: Discussionmentioning
confidence: 93%
“…The chromosome 10 QTL overlapped with the horns locus, a locus controlling discrete horn phenotypes in domestic sheep (that is, presence versus absence of horns, Montgomery et al, 1996). On the other hand, no putative QTL overlapped with loci known to influence discrete horn polymorphisms in other bovid genera (Georges et al, 1993;Vaiman et al, 1996;Asai et al, 2004). This suggests that different genes may be responsible for quantitative and discrete variation in horn morphology among bovids.…”
Section: Discussionmentioning
confidence: 93%
“…These efforts culminated in the first draft of the ovine reference genome (Archibald et al, 2010), which has been improved further and the current released reference assembly, Oar v3.1, has a contig N50 length of~40 Kb and a total assembled length of 2.61 Gb, with~99% anchored onto the 26 autosomes and the X chromosome (Jiang et al, 2014). In contrast, similar efforts at developing and refining the goat genome have lagged behind, but recent years have witnessed a slow increase in gene mapping data since the first genetic and cytogenetic maps were produced (Vaiman et al, 1996;Schibler et al, 1998) and 550 loci have been mapped to the goat genome using linkage maps of low resolution (Schibler et al, 2009). The initial release of the goat genome sequence (Dong et al, 2013) was based entirely on short-read de novo sequencing that yielded an~2.66 Gb assembly with a contig N50 length of 3.06 Mb.…”
Section: Discussionmentioning
confidence: 99%
“…The lack of development of the goat map is not surprising given that the goat map was developed specifically for a genome screen to map a single Mendelian trait, and that the region containing this locus was identified without the need for a full genome scan [26]. The only region mapped in depth on the goat genetic map is the region on chromosome 1 flanking the PISRT1 locus [21,28].…”
Section: Discussionmentioning
confidence: 99%
“…In the case of goats, the reason for developing a genetic map was to map the locus responsible for the Polled Intersex Syndrome [26], and relatively little genetic map development has occurred for goats since this locus was mapped. Initially, much of the work on the sheep genetic map was aimed at identifying loci responsible for fertility traits such as Inverdale and Booroola [12,20].…”
Section: Introductionmentioning
confidence: 99%