Sequence Variability of a Human Pseudogene

Table 3.

Summary of Human Nuclear Sequence Variation Studies

Authors Year Region L n S k π
Hey 1997 PDHA1, X chr 1.8 8 4 4 0.0015
Zietkiewicz et al. 1998 Dystrophin, X chr 7.6 250 35 36 0.0013
Nachman et al. 1998 Introns from 7 loci, X chr 11.4 10 20 — 0.0008
Harris and Hey 1999 PDHA1, X chr 4.2 35 25 11 0.0022
Kaessman et al. 1999 Non coding region, X chr 10.2 69 33 20 0.0005
Jaruzelska et al. 1999a ZFX, X chr 1.1 336 10 11 0.0011
Dorit et al. 1995 ZFY, Y chr 0.7 38 0 1 0
Hammer 1995 YAP region, Y chr 2.6 16 5 5 0.0004
Whitfield et al. 1995 SRY, Y chr 18.3 5 3 4 0.0003
Jaruzelska et al. 1999b ZFY, Y chr 0.7 205 1 2 0.00006
Shen et al. 2000 SMCY, UTY1, DBY, DFFY, Y chr 81 53 98 — 0.000052
Li and Sadler 1991 49 autosomal loci 75 2 — — 0.0011†
Fullerton et al. 1994 β-globin, chr 11 3.1 36 17 17 0.0014
Harding et al. 1997 β-globin, chr 11 2.7 349 35 30 0.0018
Clark et al. 1998 LPL, chr 8 9.7 142 88 88 0.0020
Grimsley et al. 1998 HLA-H pseudogene, chr 6 0.3 34 15 11 0.0196
Rieder et al. 1999 ACE, chr 17 24 22 78 13 0.0009
Halushka et al. 1999 75 genes 190 149 — — 0.0008
Rana et al. 1999 MC1R, chr 16 0.95 242 6 6 0.0020
Fullerton et al. 2000 ApoE, chr 19 5.5 192 22 31 0.0005
This study 2001 psGBA, chr 1 5.4 100 18 25 0.0004

  • In the cases in which the X or the Y chromosomes were studied, the standardized π (nucleotide diversity) is shown (π values were multiplied by 4/3 or by 4, respectively, to make them comparable to autosomes).

  • ↵L, length per locus is indicated as number of kilobases sequenced.

  • ↵n, number of chromosomes.

  • ↵S, number of segregating sites.

  • ↵k, number of haplotypes observed.

  • ↵chr, chromosome.

  • Nucleotide diversity for fourfold degenerate sites.

This Article

  1. Published in Advance May 8, 2001, doi: 10.1101/gr.167701 Genome Res. 11: 1071-1085

Preprint Server



Current Issue

  1. January 2026, 36 (1)
  1. Current Issue
  1. Alert me to new issues of Genome Research