Olfactory receptor-Gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

American Journal of Human Genetics

Volumn 68, Issue 4, 2001, Pages 874-883

  Giglio, Sabrina ^a   Broman, Karl W ^b   Matsumoto, Naomichi ^a   Calvari, Vladimiro ^c   Gimelli, Giorgio ^e   Neumann, Thomas ^f   Ohashi, Hirofumi ^g   Voullaire, Lucille ^h   Larizza, Daniela ^d   Giorda, Roberto ⁱ   Weber, Jim L ^b   Ledbetter, David H ^a   Zuffardi, Orsetta ^c  

^a UNIVERSITY OF CHICAGO   (United States)

^b MARSHFIELD CLINIC   (United States)

^c UNIVERSITY OF PAVIA   (Italy)

^d Matteo Foundation   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f UNIVERSITY OF MÜNSTER   (Germany)

^g NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

ⁱ SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 8P; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; GENE CLUSTER; GENE DUPLICATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MOLECULAR CLONING; OLFACTORY RECEPTOR; PRIORITY JOURNAL; PROGENY; RECEPTOR GENE;

MAMMALIA;

EID: 0035071955     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/319506     Document Type: Article

References (25)

1. A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13
2. Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature
3. Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1
4. Inverted duplication of 8p: Ten new patients and review of the literature
5. The same molecular mechanism at the maternal meiosis I produces mono and dicentric 8p duplications
6. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects
7. Sequence, structure, and evolution of a complete human olfactory receptor gene cluster
8. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization
9. Structure of chromosomal duplicons and their role in mediating human genomic disorders
10. A selective difference between Y-chromosomal DNA haplotypes
11. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
12. Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)
13. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
14. A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient
15. Odorant receptor genes in humans
16. A small supernumerary acentric marker chromosome 8 in a 23 year old slightly dysmorphic patient without mental retardation
17. A stable acentric marker chromosome: Possible existence of an intercalary ancient centromere at distal 8p
18. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
19. Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update
20. Characterization of the NPHP1 locus: Mutational mechanism involved in deletions in familial juvenile nephronophthisis
21. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
22. Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome
23. Many paths to the top of the mountain: Diverse evolutionary solutions to centromere structure
24. Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)