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Titolo:
THE MOUSE MID1 GENE - IMPLICATIONS FOR THE PATHOGENESIS OF OPITZ-SYNDROME AND THE EVOLUTION OF THE MAMMALIAN PSEUDOAUTOSOMAL REGION
Autore:
DALZOTTO L; QUADERI NA; ELLIOTT R; LINGERFELTER PA; CARREL L; VALSECCHI V; MONTINI E; YEN CH; CHAPMAN V; KALCHEVA I; ARRIGO G; ZUFFARDI O; THOMAS S; WILLARD HF; BALLABIO A; DISTECHE CM; RUGARLI EI;
Indirizzi:
TELETHON INST GENET & MED,SAN RAFFAELE BIOMED SCI PK MILAN ITALY TELETHON INST GENET & MED MILAN ITALY ROSWELL PK CANC INST,DEPT MOL & CELLULAR BIOL BUFFALO NY 14263 UNIV WASHINGTON,DEPT PATHOL SEATTLE WA 98195 CASE WESTERN RESERVE UNIV,SCH MED,DEPT GENET CLEVELAND OH 44106 CASE WESTERN RESERVE UNIV,SCH MED,CTR HUMAN GENET CLEVELAND OH 44106 UNIV HOSP CLEVELAND CLEVELAND OH 44106 SERV CITOGENET MILAN ITALY UNIV PAVIA,CATTEDRA BIOL GEN I-27100 PAVIA ITALY
Titolo Testata:
Human molecular genetics
fascicolo: 3, volume: 7, anno: 1998,
pagine: 489 - 499
SICI:
0964-6906(1998)7:3<489:TMMG-I>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN SEX-CHROMOSOMES; STEROID SULFATASE GENE; KALLMANN SYNDROME GENE; Y-CHROMOSOME; X-INACTIVATION; MUS-SPRETUS; INTERSPECIFIC HYBRIDS; HIGH-FREQUENCY; HALDANE RULE; MALE MEIOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
55
Recensione:
Indirizzi per estratti:
Citazione:
L. Dalzotto et al., "THE MOUSE MID1 GENE - IMPLICATIONS FOR THE PATHOGENESIS OF OPITZ-SYNDROME AND THE EVOLUTION OF THE MAMMALIAN PSEUDOAUTOSOMAL REGION", Human molecular genetics, 7(3), 1998, pp. 489-499

Abstract

We have recently reported isolation of the gene responsible for X-linked Opitz G/BBB syndrome, a defect of midline development, MIDI is located on the distal short arm of the human X chromosome (Xp22.3) and encodes a novel member of the B box family of zinc finger proteins, We have now cloned the murine homolog of MIDI and performed preliminary expression studies during development, Midi expression in undifferentiated cells in the central nervous, gastrointestinal and urogenital systems suggests that abnormal cell proliferation may underlie the defect in midline development characteristic of Opitz syndrome, We have also found that Midi is located within the mouse pseudoautosomal region (PAR) in Mus musculus, while it seems to be X-specific in Mus spretus, Therefore, Midi is likely to be a recent acquisition of the M. musculus PAR, Genetic and FISH analyses also demonstrated a high frequency of unequal crossovers in the murine PAR, creating spontaneous deletion/duplication events involving Midi. These data provide evidence for the first time that genetic instability of the PAR may affect functionally important genes, In addition, we show that MIDI is the first example of a gene subject to X-inactivation in man while escaping it in mouse, These data contribute to a better understanding of the molecular contentand evolution of the rodent PAR.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 19:25:40