The Inverted Y-Chromosome Polymorphism in the Gujarati Muslim Indian Population of South Africa Has a Single Origin

Spurdle, Amanda B.; Jenkins, Trefor

doi:10.1159/000154093

Cited by 10 publications

(3 citation statements)

References 2 publications

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“…Both types of variation may occur in the same species, for example in humans (NAZARENKO and PUZYREV 1985;BERNSTEIN et al 1986;POTLURI et al 1987;WALL and BUTLER 1989;SPURDLE and JENKINS 1992).…”

Section: K Fredga and M Jaarolamentioning

confidence: 99%

The Origin and Distribution of the Lund Y Chromosome in Microtus Agrestis (Rodentia, Mammalia)

Fredga

Jaarola

2004

Hereditas

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The Lund Y (Lu-Y) chromosome of the field vole (Microtus agrestis) is distinguished from the standard Y (St-Y) by its much longer short arm. G-banding revealed that the Lu-Y originated by a pericentric inversion in the St-Y. Chromosome analysis of 297 male field voles from 92 localities in Fennoscandia. Germany, and England, in addition to data from the literature, made it possible to map the distribution area of the Lu-Y. It is restricted to the south-western parts of Sweden. The question of when and where the Lund Y population originated is discussed. Adding data from a hybrid zone (Jaarola et al. 1997) and from females, totally 491 specimens from 120 localities were analyzed without detecting any variation in chromosome number and autosome morphology. Other cases of intraspecific Y chromosome polymorphism in mammals, and the use of Y chromosome variants as population genetic markers, are discussed.

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Section: K Fredga and M Jaarolamentioning

confidence: 99%

The Origin and Distribution of the Lund Y Chromosome in Microtus Agrestis (Rodentia, Mammalia)

Fredga

Jaarola

2004

Hereditas

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“…However, previous studies of individuals with pericentric Y inversions, whose frequency is estimated at 1–2 per 1,000 males, have found the inversions in male relatives, indicating that such inversions are heritable and thus compatible with fertility [17-24]. Indeed, a pericentric Y inversion of a single origin was found at high frequency (~30%) among a South African population whose ancestors originated from the Indian state of Gujarat [23,24]. …”

Section: Discussionmentioning

confidence: 99%

Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms

et al. 2013

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Amplicons – large, nearly identical repeats in direct or inverted orientation – are abundant in the male-specific region of the human Y chromosome (MSY) and provide targets for intrachromosomal non-allelic homologous recombination (NAHR). Thus far, NAHR events resulting in deletions, duplications, inversions, or isodicentric chromosomes have been reported only for amplicon pairs located exclusively on the short arm (Yp) or the long arm (Yq). Here we report our finding of four men with Y chromosomes that evidently formed by intrachromosomal NAHR between inverted repeat pairs comprising one amplicon on Yp and one amplicon on Yq. In two men with spermatogenic failure, sister-chromatid crossing-over resulted in pseudoisoYp chromosome formation and loss of distal Yq. In two men with normal spermatogenesis, intrachromatid crossing-over generated pericentric inversions. These findings highlight the recombinogenic nature of the MSY, as intrachromosomal NAHR occurs for nearly all Y-chromosome amplicon pairs, even those located on opposing chromosome arms.

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“…cept was supported by Bernstein et al [1986] reporting an inv(Y) at a very high frequency (30.5%) in the Gujerati Muslim Indian population of South Africa going back to a founder effect [Spurdle and Jenkins, 1992]. Apparently there was no indication that the inv(Y) chromosome is associated with any reproductive disadvantages.…”

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confidence: 99%

Heterogeneity of Pericentric Inversions of the Human Y Chromosome

Knebel¹,

Pasantes²,

Thi³

et al. 2011

Cytogenet Genome Res

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Pericentric inversions of the human Y chromosome (inv(Y)) are the result of breakpoints in Yp and Yq. Whether these breakpoints occur recurrently on specific hotspots or appear at different locations along the repeat structure of the human Y chromosome is an open question. Employing FISH for a better definition and refinement of the inversion breakpoints in 9 cases of inv(Y) chromosomes, with seemingly unvarying metacentric appearance after banding analysis, unequivocally resulted in heterogeneity of the pericentric inversions of the human Y chromosome. While in all 9 inv(Y) cases the inversion breakpoints in the short arm fall in a gene-poor region of X-transposed sequences proximal to PAR1 and SRY in Yp11.2, there are clearly 3 different inversion breakpoints in the long arm. Inv(Y)-types I and II are familial cases showing inversion breakpoints that map in Yq11.23 or in Yq11.223, outside the ampliconic fertility gene cluster of DAZ and CDY in AZFc. Inv(Y)-type III shows an inversion breakpoint in Yq11.223 that splits the DAZ and CDY fertility gene-cluster in AZFc. This inversion type is representative of both familial cases and cases with spermatogenetic impairment. In a further familial case of inv(Y), with almost acrocentric morphology, the breakpoints are within the TSPY and RBMY repeat in Yp and within the heterochromatin in Yq. Therefore, the presence of specific inversion breakpoints leading to impaired fertility in certain inv(Y) cases remains an open question.

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The Inverted Y-Chromosome Polymorphism in the Gujarati Muslim Indian Population of South Africa Has a Single Origin

Cited by 10 publications

References 2 publications

The Origin and Distribution of the Lund Y Chromosome in Microtus Agrestis (Rodentia, Mammalia)

The Origin and Distribution of the Lund Y Chromosome in Microtus Agrestis (Rodentia, Mammalia)

Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms

Heterogeneity of Pericentric Inversions of the Human Y Chromosome

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