Biomaterial Database

Paternal origin of the de novo constitutional t(11;22)(q23;q11). 2010

Tamae Ohye, and Hidehito Inagaki, and Hiroshi Kogo, and Makiko Tsutsumi, and Takema Kato, and Maoqing Tong, and Merryn V E Macville, and Livija Medne, and Elaine H Zackai, and Beverly S Emanuel, and Hiroki Kurahashi

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.

The constitutional t(11;22)(q23;q11) is a well-known recurrent non-Robertsonian translocation in humans. Although translocations generally occur in a random fashion, the break points of t(11;22)s are concentrated within several hundred base pairs on 11q23 and 22q11. These regions are characterized by palindromic AT-rich repeats (PATRRs), which appear to be responsible for the genomic instability. Translocation-specific PCR detects de novo t(11;22)s in sperm from healthy males at a frequency of 1/10(4)-10(5), but never in lymphoblasts, fibroblasts or other human somatic cell lines. This suggests that the generation of t(11;22) rearrangement is linked to gametogenesis, although female germ cells have not been tested. Here, we have studied eight cases of de novo t(11;22) to determine the parental origin of the translocation using the polymorphisms on the relevant PATRRs. All of the eight translocations were found to be of paternal origin. This result implicates a possible novel mechanism of sperm-specific generation of palindrome-mediated chromosomal translocations.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010290	Parents	Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent.	Step-Parents,Parental Age,Parenthood Status,Stepparent,Age, Parental,Ages, Parental,Parent,Parental Ages,Status, Parenthood,Step Parents,Step-Parent,Stepparents
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002880	Chromosomes, Human, Pair 11	A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.	Chromosome 11
D002892	Chromosomes, Human, Pair 22	A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.	Chromosome 22
D005190	Family	A social group consisting of parents or parent substitutes and children.	Family Life Cycles,Family Members,Family Life Cycle,Family Research,Filiation,Kinship Networks,Relatives,Families,Family Member,Kinship Network,Life Cycle, Family,Life Cycles, Family,Network, Kinship,Networks, Kinship,Research, Family
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483	Alleles	Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.	Allelomorphs,Allele,Allelomorph
D014178	Translocation, Genetic	A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.	Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic