A DNA Probe Detecting Multiple Haplotypes of the Human Y Chromosome

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1986 Apr 1

PMID 3010708

Citations 24

Authors

K Y Ngo

G Vergnaud

C Johnsson

G Lucotte

J Weissenbach

Affiliations

Soon will be listed here.

Abstract

We have characterized a DNA probe (49f) that detects about 15 Y-specific TaqI bands corresponding to a low-copy number sequence. Five of these bands, each representing a single DNA fragment, can either be present, absent, or variable in length. Familial segregation studies have shown that the variations of these fragments are inherited in a Mendelian fashion and strictly Y-linked. A survey of 44 male individuals indicated that the five variable TaqI fragments detected by probe 49f can be considered as five independent allelic series. Each series represents the different and mutually exclusive allelic forms observed for a single DNA fragment. A total of 16 haplotypes, each defined by a different combination of the various forms of each of these five restriction fragment length polymorphisms, were observed among the 44 scored individuals. These TaqI restriction polymorphisms are not observed with other restriction digests and have therefore been attributed to point mutations. The five polymorphic fragments map to Yq11, a region that does not recombine with the X chromosome and are therefore not redistributed. This implies that an apparently independent reassortment of one of these series with respect to the others can be explained only on the basis of mutations that occurred several times (or reverted) during evolution of the Y chromosome. However, an examination of the different combinations of two or more allelic series suggests that some alleles are not randomly distributed and raises the possibility of establishing a genealogy of the human Y chromosome.

Citing Articles

Sequencing of rhesus macaque Y chromosome clarifies origins and evolution of the DAZ (Deleted in AZoospermia) genes.

Hughes J, Skaletsky H, Page D Bioessays. 2012; 34(12):1035-44.

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A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes.

Cruciani F, Santolamazza P, Shen P, Macaulay V, Moral P, Olckers A Am J Hum Genet. 2002; 70(5):1197-214.

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Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.

Rosser Z, Zerjal T, Hurles M, Adojaan M, Alavantic D, Amorim A Am J Hum Genet. 2000; 67(6):1526-43.

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Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism.

Hurles M, Veitia R, Arroyo E, Armenteros M, Bertranpetit J, Perez-Lezaun A Am J Hum Genet. 1999; 65(5):1437-48.

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Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms.

Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M, Santachiara-Benerecetti A Am J Hum Genet. 1998; 62(2):420-34.

PMID: 9463310 PMC: 1376879. DOI: 10.1086/301702.

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