SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes

Maria Piccione, Giovanni Corsello, Maria Grazia Salluzzo, Francesco Scillato, Corrado Romano, Francesco Calí, Ferdinando Nicoletti, Carmelo Romano, Filippo Caraci, Cataldo Scavuzzo, Michele Salemi, Paolo Bosco, Concetta Barone

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2 Citazioni (Scopus)


Down’s syndrome (DS) is one of the most common numer-ical chromosomal aberrations, usually caused by trisomy ofchromosome 21, and is frequently complicated with congen-ital heart defects, duodenal obstruction and other conditionsincluding undescended testis (UDT) (Fonkalsrud 1970). Theincidence of undescended testes in DS was reported to be6.52% (Chew and Hutson 2004) while the incidence of UDTin the first year is approximately 0.2%–0.8% in the nor-mal population (Bensonet al. 1991; Ichiyanagiet al. 1998).Rapleyet al. (2000) provided evidence for a testicular germ-cell tumours (TGCT) predisposition locus at Xq27; the au-thors obtained an hlod score of 4.7 from families with at leastone bilateral case, corresponding to a genome-wide signifi-cance level ofP=0.034. The proportion of families withundescended testis linked to this locus was 74%.SPANX(sperm protein associated with the nucleus in the X chro-mosome) gene family maps in the same chromosomal regionand seven highly homologous genes belonging to this fam-ily have been described (SPANX-A1, SPANX-A2, SPANX-B1,SPANX-B2, SPANX-C, SPANX-DandSPANX-E) accordingto the human genome database build 36.2. These genes,made up of two exons separated by a small intron of≈650bp, are expressed in sperm cells (Westbrooket al. 2000) andin many tumours (Wanget al. 2003; Zendmanet al. 2003;Westbrooket al. 2004). Moreover, expression ofSPANX genes has been demonstrated in TGCT (Salemiet al. 2006).The function ofSPANXgene-encoded proteins is currentlyunknown, and it is also not known if all the members orsome of them are normally expressed in the testis (West-brooket al. 2000). Evidence suggests thatCTp11,whichis 100% homologous toSPANX-C, is expressed in tumourssuch as melanoma (Zendmanet al. 2003), andSPANX-Binmyeloma and other haematological malignancies (Wangetal. 2003; Zendmanet al. 2003).SPANX-CmRNA was foundexpressed in normal tissues and in embryonal carcinomas ofthe testis (Salemiet al. 2006). Further, it is very difficult todesign primers adequate for gene-specific PCR amplificationwithin the SPANX locus. For this reason, we decided to fo-cus our study onSPANX-CandSPANX-Bgenes. The aim ofthis study is to evaluate the genetic variability ofSPANX-BandSPANX-Cin D.UDT (Down’s syndrom patients affectedby undescended testis) compared with D (Down’s syndrompatients without undescended testis) and Nm (normal popu-lation).
Lingua originaleEnglish
pagine (da-a)93-97
Numero di pagine5
RivistaJournal of Genetics
Stato di pubblicazionePublished - 2009

All Science Journal Classification (ASJC) codes

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