A Novel Human Phosphoglucomutase (PGM5) Maps to the Centromeric Region of Chromosome 9

Edwards, Yvonne H.; Putt, Wendy; Fox, Margaret; Ives, Jane H.

doi:10.1006/geno.1995.9866

Cited by 32 publications

(26 citation statements)

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“…We therefore concluded that these BACs contain se- quences which are duplicated in OWM species, with duplicate copies flanking the centromere in these species. This is not unusual, as pericentromeric duplications flanking centromeres are a common feature of primate chromosomes (Hardas et al 1994;Arnold et al 1995;Edwards et al 1995;Jackson et al 1999;Bailey et al 2002). Probe RP11-123N1 (see above) gave a signal at 15q11, in addition to the main signal at 15q25.…”

Section: Duplications Flank the Ancestral Centromere In Old World Monmentioning

confidence: 76%

Neocentromeres in 15q24-26 Map to Duplicons Which Flanked an Ancestral Centromere in 15q25

Ventura¹,

Mudge²,

Palumbo³

et al. 2003

Genome Res.

113

111

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The existence of latent centromeres has been proposed as a possible explanation for the ectopic emergence of neocentromeres in humans. This hypothesis predicts an association between the position of neocentromeres and the position of ancient centromeres inactivated during karyotypic evolution. Human chromosomal region 15q24-26 is one of several hotspots where multiple cases of neocentromere emergence have been reported, and it harbors a high density of chromosome-specific duplicons, rearrangements of which have been implicated as a susceptibility factor for panic and phobic disorders with joint laxity. We investigated the evolutionary history of this region in primates and found that it contains the site of an ancestral centromere which became inactivated about 25 million years ago, after great apes/Old World monkeys diverged. This inactivation has followed a noncentromeric chromosomal fission of an ancestral chromosome which gave rise to phylogenetic chromosomes XIV and XV in human and great apes. Detailed mapping of the ancient centromere and two neocentromeres in 15q24-26 has established that the neocentromere domains map approximately 8 Mb proximal and 1.5 Mb distal of the ancestral centromeric region, but that all three map within 500 kb of duplicons, copies of which flank the centromere in Old World Monkey species. This suggests that the association between neocentromere and ancestral centromere position on this chromosome may be due to the persistence of recombinogenic duplications accrued within the ancient pericentromere, rather than the retention of “centromere-competent” sequences per se. The high frequency of neocentromere emergence in the 15q24-26 region and the high density of clinically important duplicons are, therefore, understandable in the light of the evolutionary history of this region.

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Section: Duplications Flank the Ancestral Centromere In Old World Monmentioning

confidence: 76%

Neocentromeres in 15q24-26 Map to Duplicons Which Flanked an Ancestral Centromere in 15q25

Ventura¹,

Mudge²,

Palumbo³

et al. 2003

Genome Res.

113

111

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“…Only the human genome exhibits this fusion on chr 2, and some of the most extreme lineage-specific copy number expansions we detect appear to have occurred in this region. For example, the largest gene copy number expansion in the Pan lineage (chimp and bonobo) compared to human was found at the chr 2 fusion region and includes copies of the PGM5 gene (Cheng et al 2005), which also maps to the pericentric region of chr 9 and is involved in synthesis and breakdown of glucose (Edwards et al 1995). Based on the similar average aCGH values for the PGM5 increase in chimp (avg.…”

Section: Gene Nurseriesmentioning

confidence: 99%

Gene copy number variation spanning 60 million years of human and primate evolution

Dumas¹,

Kim²,

et al. 2007

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Given the evolutionary importance of gene duplication to the emergence of species-specific traits, we have extended the application of cDNA array-based comparative genomic hybridization (aCGH) to survey gene duplications and losses genome-wide across 10 primate species, including human. Using human cDNA arrays that contained 41,126 cDNAs, corresponding to 24,473 unique human genes, we identified 4159 genes that likely represent most of the major lineage-specific gene copy number gains and losses that have occurred in these species over the past 60 million years. We analyzed 1,233,780 gene-to-gene data points and found that gene gains typically outnumbered losses (ratio of gains/losses = 2.34) and these frequently cluster in complex and dynamic genomic regions that are likely to serve as gene nurseries. Almost one-third of all human genes (6696) exhibit an aCGH-predicted change in copy number in one or more of these species, and within-species gene amplification is also evident. Many of the genes identified here are likely to be important to lineage-specific traits including, for example, human-specific duplications of the AQP7 gene, which represent intriguing candidates to underlie the key physiological adaptations in thermoregulation and energy utilization that permitted human endurance running.

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“…After an initial denaturation step, 30-35 cycles were performed, using conditions established for each primer as described. The quality of the cDNA prepared from human tissues was checked using primers for the ubiquitously expressed gene phosphoglucomutase 1 (PGM1), with an annealing temperature of 56°C (Edwards et al 1995).…”

Section: Rna Preparation and Rt-pcrmentioning

confidence: 99%

TTY2: A Multicopy Y-Linked Gene Family

Makrinou

Fox²,

Lovett³

et al. 2001

Genome Res.

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Genes involved in human male sex determination and spermatogenesis are likely to be located on the Y chromosome. In an effort to identify Y-linked, testis-expressed genes, a cDNA selection library was generated by selecting testis cDNA with Y-cosmid clones. Resultant clones containing repetitive or vector material were eliminated, and 79 of the remaining clones were sequenced. Nineteen cDNAs showed homology with the TTY2 gene, and indicated that TTY2 is part of a large gene family. Screening of a panel of Y-linked cosmids revealed that the TTY2 gene family includes at least 26 members organized in 14 subfamilies. Further investigation revealed that TTY2 genes are arranged in tandemly arrayed clusters on both arms of the Y chromosome, and each gene comprises a series of tandemly arranged repeats. RT-PCR studies for two of these genes revealed that they are expressed in adult and fetal testis, as well as in the adult kidney. None of the genes investigated in detail contain an open reading frame. We conclude that the TTY2 gene family is composed of multiple copies, some of which may function as noncoding RNA transcripts and some may be pseudogenes

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A Novel Human Phosphoglucomutase (PGM5) Maps to the Centromeric Region of Chromosome 9

Cited by 32 publications

References 0 publications

Neocentromeres in 15q24-26 Map to Duplicons Which Flanked an Ancestral Centromere in 15q25

Neocentromeres in 15q24-26 Map to Duplicons Which Flanked an Ancestral Centromere in 15q25

Gene copy number variation spanning 60 million years of human and primate evolution

TTY2: A Multicopy Y-Linked Gene Family

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